SNP Links for Protein (Select 767948807) - SNP

Links from Protein

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Select item 14892430001.

rs1489243000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:72023672 (GRCh38)
7:71488657 (GRCh37)
Canonical SPDI:: NC_000007.14:72023671:G:A
Gene:: CALN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.72023672G>A, NC_000007.13:g.71488657G>A, NM_031468.4:c.486C>T, NM_031468.3:c.486C>T, XM_011516594.4:c.411C>T, XM_011516594.3:c.411C>T, XM_011516594.2:c.411C>T, XM_011516594.1:c.411C>T, NM_001017440.3:c.360C>T, NM_001017440.2:c.360C>T, XM_011516596.3:c.360C>T, XM_011516596.2:c.360C>T, XM_011516596.1:c.360C>T, XM_017012676.3:c.486C>T, XM_017012676.2:c.486C>T, XM_017012676.1:c.486C>T, XM_011516597.2:c.360C>T, XM_011516597.1:c.360C>T, XM_017012678.2:c.360C>T, XM_017012678.1:c.360C>T, XM_017012680.2:c.360C>T, XM_017012680.1:c.360C>T, XM_017012682.2:c.360C>T, XM_017012682.1:c.360C>T, XM_017012683.2:c.360C>T, XM_017012683.1:c.360C>T, XM_017012677.2:c.369C>T, XM_017012677.1:c.369C>T, XM_017012679.1:c.360C>T, XM_047420910.1:c.498C>T, NM_001363460.1:c.360C>T, XM_047420911.1:c.360C>T

Select item 14884705842.

rs1488470584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71810420 (GRCh38)
7:71275405 (GRCh37)
Canonical SPDI:: NC_000007.14:71810419:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.71810420T>C, NC_000007.13:g.71275405T>C, NM_031468.4:c.574A>G, NM_031468.3:c.574A>G, XM_011516594.4:c.499A>G, XM_011516594.3:c.499A>G, XM_011516594.2:c.499A>G, XM_011516594.1:c.499A>G, NM_001017440.3:c.448A>G, NM_001017440.2:c.448A>G, XM_011516596.3:c.448A>G, XM_011516596.2:c.448A>G, XM_011516596.1:c.448A>G, XM_017012676.3:c.574A>G, XM_017012676.2:c.574A>G, XM_017012676.1:c.574A>G, XM_011516597.2:c.448A>G, XM_011516597.1:c.448A>G, XM_017012678.2:c.448A>G, XM_017012678.1:c.448A>G, XM_017012680.2:c.448A>G, XM_017012680.1:c.448A>G, XM_017012682.2:c.448A>G, XM_017012682.1:c.448A>G, XM_017012683.2:c.448A>G, XM_017012683.1:c.448A>G, XM_017012677.2:c.457A>G, XM_017012677.1:c.457A>G, XM_017012679.1:c.448A>G, XM_047420910.1:c.586A>G, NM_001363460.1:c.448A>G, NP_113656.2:p.Met192Val, XP_011514896.1:p.Met167Val, NP_001017440.1:p.Met150Val, XP_011514898.1:p.Met150Val, XP_016868165.1:p.Met192Val, XP_011514899.1:p.Met150Val, XP_016868167.1:p.Met150Val, XP_016868169.1:p.Met150Val, XP_016868171.1:p.Met150Val, XP_016868172.1:p.Met150Val, XP_016868166.1:p.Met153Val, XP_016868168.1:p.Met150Val, XP_047276866.1:p.Met196Val, NP_001350389.1:p.Met150Val

Select item 14803332543.

rs1480333254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:71810357 (GRCh38)
7:71275342 (GRCh37)
Canonical SPDI:: NC_000007.14:71810356:A:G,NC_000007.14:71810356:A:T
Gene:: CALN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.71810357A>G, NC_000007.14:g.71810357A>T, NC_000007.13:g.71275342A>G, NC_000007.13:g.71275342A>T, NM_031468.4:c.637T>C, NM_031468.4:c.637T>A, NM_031468.3:c.637T>C, NM_031468.3:c.637T>A, XM_011516594.4:c.562T>C, XM_011516594.4:c.562T>A, XM_011516594.3:c.562T>C, XM_011516594.3:c.562T>A, XM_011516594.2:c.562T>C, XM_011516594.2:c.562T>A, XM_011516594.1:c.562T>C, XM_011516594.1:c.562T>A, NM_001017440.3:c.511T>C, NM_001017440.3:c.511T>A, NM_001017440.2:c.511T>C, NM_001017440.2:c.511T>A, XM_011516596.3:c.511T>C, XM_011516596.3:c.511T>A, XM_011516596.2:c.511T>C, XM_011516596.2:c.511T>A, XM_011516596.1:c.511T>C, XM_011516596.1:c.511T>A, XM_017012676.3:c.637T>C, XM_017012676.3:c.637T>A, XM_017012676.2:c.637T>C, XM_017012676.2:c.637T>A, XM_017012676.1:c.637T>C, XM_017012676.1:c.637T>A, XM_011516597.2:c.511T>C, XM_011516597.2:c.511T>A, XM_011516597.1:c.511T>C, XM_011516597.1:c.511T>A, XM_017012678.2:c.511T>C, XM_017012678.2:c.511T>A, XM_017012678.1:c.511T>C, XM_017012678.1:c.511T>A, XM_017012680.2:c.511T>C, XM_017012680.2:c.511T>A, XM_017012680.1:c.511T>C, XM_017012680.1:c.511T>A, XM_017012682.2:c.511T>C, XM_017012682.2:c.511T>A, XM_017012682.1:c.511T>C, XM_017012682.1:c.511T>A, XM_017012683.2:c.511T>C, XM_017012683.2:c.511T>A, XM_017012683.1:c.511T>C, XM_017012683.1:c.511T>A, XM_017012677.2:c.520T>C, XM_017012677.2:c.520T>A, XM_017012677.1:c.520T>C, XM_017012677.1:c.520T>A, XM_017012679.1:c.511T>C, XM_017012679.1:c.511T>A, XM_047420910.1:c.649T>C, XM_047420910.1:c.649T>A, NM_001363460.1:c.511T>C, NM_001363460.1:c.511T>A, NP_113656.2:p.Cys213Arg, NP_113656.2:p.Cys213Ser, XP_011514896.1:p.Cys188Arg, XP_011514896.1:p.Cys188Ser, NP_001017440.1:p.Cys171Arg, NP_001017440.1:p.Cys171Ser, XP_011514898.1:p.Cys171Arg, XP_011514898.1:p.Cys171Ser, XP_016868165.1:p.Cys213Arg, XP_016868165.1:p.Cys213Ser, XP_011514899.1:p.Cys171Arg, XP_011514899.1:p.Cys171Ser, XP_016868167.1:p.Cys171Arg, XP_016868167.1:p.Cys171Ser, XP_016868169.1:p.Cys171Arg, XP_016868169.1:p.Cys171Ser, XP_016868171.1:p.Cys171Arg, XP_016868171.1:p.Cys171Ser, XP_016868172.1:p.Cys171Arg, XP_016868172.1:p.Cys171Ser, XP_016868166.1:p.Cys174Arg, XP_016868166.1:p.Cys174Ser, XP_016868168.1:p.Cys171Arg, XP_016868168.1:p.Cys171Ser, XP_047276866.1:p.Cys217Arg, XP_047276866.1:p.Cys217Ser, NP_001350389.1:p.Cys171Arg, NP_001350389.1:p.Cys171Ser

Select item 14791998964.

rs1479199896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:72278743 (GRCh38)
7:71743728 (GRCh37)
Canonical SPDI:: NC_000007.14:72278742:G:C
Gene:: CALN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.72278743G>C, NC_000007.13:g.71743728G>C, NM_031468.4:c.187C>G, NM_031468.3:c.187C>G, XM_011516594.4:c.112C>G, XM_011516594.3:c.112C>G, XM_011516594.2:c.112C>G, XM_011516594.1:c.112C>G, NM_001017440.3:c.61C>G, NM_001017440.2:c.61C>G, XM_011516596.3:c.61C>G, XM_011516596.2:c.61C>G, XM_011516596.1:c.61C>G, XM_017012676.3:c.187C>G, XM_017012676.2:c.187C>G, XM_017012676.1:c.187C>G, XM_011516597.2:c.61C>G, XM_011516597.1:c.61C>G, XM_017012678.2:c.61C>G, XM_017012678.1:c.61C>G, XM_017012680.2:c.61C>G, XM_017012680.1:c.61C>G, XM_017012682.2:c.61C>G, XM_017012682.1:c.61C>G, XM_017012683.2:c.61C>G, XM_017012683.1:c.61C>G, XM_017012677.2:c.70C>G, XM_017012677.1:c.70C>G, XM_017012679.1:c.61C>G, XM_047420910.1:c.199C>G, NM_001363460.1:c.61C>G, XM_047420911.1:c.61C>G, NP_113656.2:p.Leu63Val, XP_011514896.1:p.Leu38Val, NP_001017440.1:p.Leu21Val, XP_011514898.1:p.Leu21Val, XP_016868165.1:p.Leu63Val, XP_011514899.1:p.Leu21Val, XP_016868167.1:p.Leu21Val, XP_016868169.1:p.Leu21Val, XP_016868171.1:p.Leu21Val, XP_016868172.1:p.Leu21Val, XP_016868166.1:p.Leu24Val, XP_016868168.1:p.Leu21Val, XP_047276866.1:p.Leu67Val, NP_001350389.1:p.Leu21Val, XP_047276867.1:p.Leu21Val

Select item 14791904205.

rs1479190420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:71810447 (GRCh38)
7:71275432 (GRCh37)
Canonical SPDI:: NC_000007.14:71810446:A:G
Gene:: CALN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.71810447A>G, NC_000007.13:g.71275432A>G, NM_031468.4:c.547T>C, NM_031468.3:c.547T>C, XM_011516594.4:c.472T>C, XM_011516594.3:c.472T>C, XM_011516594.2:c.472T>C, XM_011516594.1:c.472T>C, NM_001017440.3:c.421T>C, NM_001017440.2:c.421T>C, XM_011516596.3:c.421T>C, XM_011516596.2:c.421T>C, XM_011516596.1:c.421T>C, XM_017012676.3:c.547T>C, XM_017012676.2:c.547T>C, XM_017012676.1:c.547T>C, XM_011516597.2:c.421T>C, XM_011516597.1:c.421T>C, XM_017012678.2:c.421T>C, XM_017012678.1:c.421T>C, XM_017012680.2:c.421T>C, XM_017012680.1:c.421T>C, XM_017012682.2:c.421T>C, XM_017012682.1:c.421T>C, XM_017012683.2:c.421T>C, XM_017012683.1:c.421T>C, XM_017012677.2:c.430T>C, XM_017012677.1:c.430T>C, XM_017012679.1:c.421T>C, XM_047420910.1:c.559T>C, NM_001363460.1:c.421T>C, NP_113656.2:p.Tyr183His, XP_011514896.1:p.Tyr158His, NP_001017440.1:p.Tyr141His, XP_011514898.1:p.Tyr141His, XP_016868165.1:p.Tyr183His, XP_011514899.1:p.Tyr141His, XP_016868167.1:p.Tyr141His, XP_016868169.1:p.Tyr141His, XP_016868171.1:p.Tyr141His, XP_016868172.1:p.Tyr141His, XP_016868166.1:p.Tyr144His, XP_016868168.1:p.Tyr141His, XP_047276866.1:p.Tyr187His, NP_001350389.1:p.Tyr141His

Select item 14737721016.

rs1473772101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:72023701 (GRCh38)
7:71488686 (GRCh37)
Canonical SPDI:: NC_000007.14:72023700:G:A
Gene:: CALN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000048/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.72023701G>A, NC_000007.13:g.71488686G>A, NM_031468.4:c.457C>T, NM_031468.3:c.457C>T, XM_011516594.4:c.382C>T, XM_011516594.3:c.382C>T, XM_011516594.2:c.382C>T, XM_011516594.1:c.382C>T, NM_001017440.3:c.331C>T, NM_001017440.2:c.331C>T, XM_011516596.3:c.331C>T, XM_011516596.2:c.331C>T, XM_011516596.1:c.331C>T, XM_017012676.3:c.457C>T, XM_017012676.2:c.457C>T, XM_017012676.1:c.457C>T, XM_011516597.2:c.331C>T, XM_011516597.1:c.331C>T, XM_017012678.2:c.331C>T, XM_017012678.1:c.331C>T, XM_017012680.2:c.331C>T, XM_017012680.1:c.331C>T, XM_017012682.2:c.331C>T, XM_017012682.1:c.331C>T, XM_017012683.2:c.331C>T, XM_017012683.1:c.331C>T, XM_017012677.2:c.340C>T, XM_017012677.1:c.340C>T, XM_017012679.1:c.331C>T, XM_047420910.1:c.469C>T, NM_001363460.1:c.331C>T, XM_047420911.1:c.331C>T, NP_113656.2:p.Arg153Cys, XP_011514896.1:p.Arg128Cys, NP_001017440.1:p.Arg111Cys, XP_011514898.1:p.Arg111Cys, XP_016868165.1:p.Arg153Cys, XP_011514899.1:p.Arg111Cys, XP_016868167.1:p.Arg111Cys, XP_016868169.1:p.Arg111Cys, XP_016868171.1:p.Arg111Cys, XP_016868172.1:p.Arg111Cys, XP_016868166.1:p.Arg114Cys, XP_016868168.1:p.Arg111Cys, XP_047276866.1:p.Arg157Cys, NP_001350389.1:p.Arg111Cys, XP_047276867.1:p.Arg111Cys

Select item 14653119177.

rs1465311917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:72023749 (GRCh38)
7:71488734 (GRCh37)
Canonical SPDI:: NC_000007.14:72023748:C:T
Gene:: CALN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.72023749C>T, NC_000007.13:g.71488734C>T, NM_031468.4:c.409G>A, NM_031468.3:c.409G>A, XM_011516594.4:c.334G>A, XM_011516594.3:c.334G>A, XM_011516594.2:c.334G>A, XM_011516594.1:c.334G>A, NM_001017440.3:c.283G>A, NM_001017440.2:c.283G>A, XM_011516596.3:c.283G>A, XM_011516596.2:c.283G>A, XM_011516596.1:c.283G>A, XM_017012676.3:c.409G>A, XM_017012676.2:c.409G>A, XM_017012676.1:c.409G>A, XM_011516597.2:c.283G>A, XM_011516597.1:c.283G>A, XM_017012678.2:c.283G>A, XM_017012678.1:c.283G>A, XM_017012680.2:c.283G>A, XM_017012680.1:c.283G>A, XM_017012682.2:c.283G>A, XM_017012682.1:c.283G>A, XM_017012683.2:c.283G>A, XM_017012683.1:c.283G>A, XM_017012677.2:c.292G>A, XM_017012677.1:c.292G>A, XM_017012679.1:c.283G>A, XM_047420910.1:c.421G>A, NM_001363460.1:c.283G>A, XM_047420911.1:c.283G>A, NP_113656.2:p.Asp137Asn, XP_011514896.1:p.Asp112Asn, NP_001017440.1:p.Asp95Asn, XP_011514898.1:p.Asp95Asn, XP_016868165.1:p.Asp137Asn, XP_011514899.1:p.Asp95Asn, XP_016868167.1:p.Asp95Asn, XP_016868169.1:p.Asp95Asn, XP_016868171.1:p.Asp95Asn, XP_016868172.1:p.Asp95Asn, XP_016868166.1:p.Asp98Asn, XP_016868168.1:p.Asp95Asn, XP_047276866.1:p.Asp141Asn, NP_001350389.1:p.Asp95Asn, XP_047276867.1:p.Asp95Asn

Select item 14587986868.

rs1458798686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:72278760 (GRCh38)
7:71743745 (GRCh37)
Canonical SPDI:: NC_000007.14:72278759:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.72278760T>C, NC_000007.13:g.71743745T>C, NM_031468.4:c.170A>G, NM_031468.3:c.170A>G, XM_011516594.4:c.95A>G, XM_011516594.3:c.95A>G, XM_011516594.2:c.95A>G, XM_011516594.1:c.95A>G, NM_001017440.3:c.44A>G, NM_001017440.2:c.44A>G, XM_011516596.3:c.44A>G, XM_011516596.2:c.44A>G, XM_011516596.1:c.44A>G, XM_017012676.3:c.170A>G, XM_017012676.2:c.170A>G, XM_017012676.1:c.170A>G, XM_011516597.2:c.44A>G, XM_011516597.1:c.44A>G, XM_017012678.2:c.44A>G, XM_017012678.1:c.44A>G, XM_017012680.2:c.44A>G, XM_017012680.1:c.44A>G, XM_017012682.2:c.44A>G, XM_017012682.1:c.44A>G, XM_017012683.2:c.44A>G, XM_017012683.1:c.44A>G, XM_017012677.2:c.53A>G, XM_017012677.1:c.53A>G, XM_017012679.1:c.44A>G, XM_047420910.1:c.182A>G, NM_001363460.1:c.44A>G, XM_047420911.1:c.44A>G, NP_113656.2:p.Asn57Ser, XP_011514896.1:p.Asn32Ser, NP_001017440.1:p.Asn15Ser, XP_011514898.1:p.Asn15Ser, XP_016868165.1:p.Asn57Ser, XP_011514899.1:p.Asn15Ser, XP_016868167.1:p.Asn15Ser, XP_016868169.1:p.Asn15Ser, XP_016868171.1:p.Asn15Ser, XP_016868172.1:p.Asn15Ser, XP_016868166.1:p.Asn18Ser, XP_016868168.1:p.Asn15Ser, XP_047276866.1:p.Asn61Ser, NP_001350389.1:p.Asn15Ser, XP_047276867.1:p.Asn15Ser

Select item 14564310849.

rs1456431084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:72278724 (GRCh38)
7:71743709 (GRCh37)
Canonical SPDI:: NC_000007.14:72278723:C:T
Gene:: CALN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.72278724C>T, NC_000007.13:g.71743709C>T, NM_031468.4:c.206G>A, NM_031468.3:c.206G>A, XM_011516594.4:c.131G>A, XM_011516594.3:c.131G>A, XM_011516594.2:c.131G>A, XM_011516594.1:c.131G>A, NM_001017440.3:c.80G>A, NM_001017440.2:c.80G>A, XM_011516596.3:c.80G>A, XM_011516596.2:c.80G>A, XM_011516596.1:c.80G>A, XM_017012676.3:c.206G>A, XM_017012676.2:c.206G>A, XM_017012676.1:c.206G>A, XM_011516597.2:c.80G>A, XM_011516597.1:c.80G>A, XM_017012678.2:c.80G>A, XM_017012678.1:c.80G>A, XM_017012680.2:c.80G>A, XM_017012680.1:c.80G>A, XM_017012682.2:c.80G>A, XM_017012682.1:c.80G>A, XM_017012683.2:c.80G>A, XM_017012683.1:c.80G>A, XM_017012677.2:c.89G>A, XM_017012677.1:c.89G>A, XM_017012679.1:c.80G>A, XM_047420910.1:c.218G>A, NM_001363460.1:c.80G>A, XM_047420911.1:c.80G>A, NP_113656.2:p.Ser69Asn, XP_011514896.1:p.Ser44Asn, NP_001017440.1:p.Ser27Asn, XP_011514898.1:p.Ser27Asn, XP_016868165.1:p.Ser69Asn, XP_011514899.1:p.Ser27Asn, XP_016868167.1:p.Ser27Asn, XP_016868169.1:p.Ser27Asn, XP_016868171.1:p.Ser27Asn, XP_016868172.1:p.Ser27Asn, XP_016868166.1:p.Ser30Asn, XP_016868168.1:p.Ser27Asn, XP_047276866.1:p.Ser73Asn, NP_001350389.1:p.Ser27Asn, XP_047276867.1:p.Ser27Asn

Select item 145138811710.

rs1451388117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:72106224 (GRCh38)
7:71571209 (GRCh37)
Canonical SPDI:: NC_000007.14:72106223:C:T
Gene:: CALN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.72106224C>T, NC_000007.13:g.71571209C>T, NM_031468.4:c.315G>A, NM_031468.3:c.315G>A, XM_011516594.4:c.240G>A, XM_011516594.3:c.240G>A, XM_011516594.2:c.240G>A, XM_011516594.1:c.240G>A, NM_001017440.3:c.189G>A, NM_001017440.2:c.189G>A, XM_011516596.3:c.189G>A, XM_011516596.2:c.189G>A, XM_011516596.1:c.189G>A, XM_017012676.3:c.315G>A, XM_017012676.2:c.315G>A, XM_017012676.1:c.315G>A, XM_011516597.2:c.189G>A, XM_011516597.1:c.189G>A, XM_017012678.2:c.189G>A, XM_017012678.1:c.189G>A, XM_017012680.2:c.189G>A, XM_017012680.1:c.189G>A, XM_017012682.2:c.189G>A, XM_017012682.1:c.189G>A, XM_017012683.2:c.189G>A, XM_017012683.1:c.189G>A, XM_017012677.2:c.198G>A, XM_017012677.1:c.198G>A, XM_017012679.1:c.189G>A, XM_047420910.1:c.327G>A, NM_001363460.1:c.189G>A, XM_047420911.1:c.189G>A, NP_113656.2:p.Met105Ile, XP_011514896.1:p.Met80Ile, NP_001017440.1:p.Met63Ile, XP_011514898.1:p.Met63Ile, XP_016868165.1:p.Met105Ile, XP_011514899.1:p.Met63Ile, XP_016868167.1:p.Met63Ile, XP_016868169.1:p.Met63Ile, XP_016868171.1:p.Met63Ile, XP_016868172.1:p.Met63Ile, XP_016868166.1:p.Met66Ile, XP_016868168.1:p.Met63Ile, XP_047276866.1:p.Met109Ile, NP_001350389.1:p.Met63Ile, XP_047276867.1:p.Met63Ile

Select item 144070038911.

rs1440700389 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:72023744 (GRCh38)
7:71488729 (GRCh37)
Canonical SPDI:: NC_000007.14:72023743:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000064/17 (TOPMED)
HGVS:: NC_000007.14:g.72023744T>C, NC_000007.13:g.71488729T>C, NM_031468.4:c.414A>G, NM_031468.3:c.414A>G, XM_011516594.4:c.339A>G, XM_011516594.3:c.339A>G, XM_011516594.2:c.339A>G, XM_011516594.1:c.339A>G, NM_001017440.3:c.288A>G, NM_001017440.2:c.288A>G, XM_011516596.3:c.288A>G, XM_011516596.2:c.288A>G, XM_011516596.1:c.288A>G, XM_017012676.3:c.414A>G, XM_017012676.2:c.414A>G, XM_017012676.1:c.414A>G, XM_011516597.2:c.288A>G, XM_011516597.1:c.288A>G, XM_017012678.2:c.288A>G, XM_017012678.1:c.288A>G, XM_017012680.2:c.288A>G, XM_017012680.1:c.288A>G, XM_017012682.2:c.288A>G, XM_017012682.1:c.288A>G, XM_017012683.2:c.288A>G, XM_017012683.1:c.288A>G, XM_017012677.2:c.297A>G, XM_017012677.1:c.297A>G, XM_017012679.1:c.288A>G, XM_047420910.1:c.426A>G, NM_001363460.1:c.288A>G, XM_047420911.1:c.288A>G

Select item 143692069412.

rs1436920694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:71787901 (GRCh38)
7:71252886 (GRCh37)
Canonical SPDI:: NC_000007.14:71787900:C:A
Gene:: CALN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.71787901C>A, NC_000007.13:g.71252886C>A, NM_031468.4:c.660G>T, NM_031468.3:c.660G>T, XM_011516594.4:c.585G>T, XM_011516594.3:c.585G>T, XM_011516594.2:c.585G>T, XM_011516594.1:c.585G>T, NM_001017440.3:c.534G>T, NM_001017440.2:c.534G>T, XM_011516596.3:c.534G>T, XM_011516596.2:c.534G>T, XM_011516596.1:c.534G>T, XM_017012676.3:c.660G>T, XM_017012676.2:c.660G>T, XM_017012676.1:c.660G>T, XM_011516597.2:c.534G>T, XM_011516597.1:c.534G>T, XM_017012678.2:c.534G>T, XM_017012678.1:c.534G>T, XM_017012680.2:c.534G>T, XM_017012680.1:c.534G>T, XM_017012682.2:c.534G>T, XM_017012682.1:c.534G>T, XM_017012683.2:c.534G>T, XM_017012683.1:c.534G>T, XM_017012677.2:c.543G>T, XM_017012677.1:c.543G>T, XM_017012679.1:c.534G>T, XM_047420910.1:c.672G>T, NM_001363460.1:c.534G>T

Select item 143334651813.

rs1433346518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:72278754 (GRCh38)
7:71743739 (GRCh37)
Canonical SPDI:: NC_000007.14:72278753:A:C
Gene:: CALN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.72278754A>C, NC_000007.13:g.71743739A>C, NM_031468.4:c.176T>G, NM_031468.3:c.176T>G, XM_011516594.4:c.101T>G, XM_011516594.3:c.101T>G, XM_011516594.2:c.101T>G, XM_011516594.1:c.101T>G, NM_001017440.3:c.50T>G, NM_001017440.2:c.50T>G, XM_011516596.3:c.50T>G, XM_011516596.2:c.50T>G, XM_011516596.1:c.50T>G, XM_017012676.3:c.176T>G, XM_017012676.2:c.176T>G, XM_017012676.1:c.176T>G, XM_011516597.2:c.50T>G, XM_011516597.1:c.50T>G, XM_017012678.2:c.50T>G, XM_017012678.1:c.50T>G, XM_017012680.2:c.50T>G, XM_017012680.1:c.50T>G, XM_017012682.2:c.50T>G, XM_017012682.1:c.50T>G, XM_017012683.2:c.50T>G, XM_017012683.1:c.50T>G, XM_017012677.2:c.59T>G, XM_017012677.1:c.59T>G, XM_017012679.1:c.50T>G, XM_047420910.1:c.188T>G, NM_001363460.1:c.50T>G, XM_047420911.1:c.50T>G, NP_113656.2:p.Leu59Arg, XP_011514896.1:p.Leu34Arg, NP_001017440.1:p.Leu17Arg, XP_011514898.1:p.Leu17Arg, XP_016868165.1:p.Leu59Arg, XP_011514899.1:p.Leu17Arg, XP_016868167.1:p.Leu17Arg, XP_016868169.1:p.Leu17Arg, XP_016868171.1:p.Leu17Arg, XP_016868172.1:p.Leu17Arg, XP_016868166.1:p.Leu20Arg, XP_016868168.1:p.Leu17Arg, XP_047276866.1:p.Leu63Arg, NP_001350389.1:p.Leu17Arg, XP_047276867.1:p.Leu17Arg

Select item 143249984414.

rs1432499844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:72106254 (GRCh38)
7:71571239 (GRCh37)
Canonical SPDI:: NC_000007.14:72106253:G:A
Gene:: CALN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.72106254G>A, NC_000007.13:g.71571239G>A, NM_031468.4:c.285C>T, NM_031468.3:c.285C>T, XM_011516594.4:c.210C>T, XM_011516594.3:c.210C>T, XM_011516594.2:c.210C>T, XM_011516594.1:c.210C>T, NM_001017440.3:c.159C>T, NM_001017440.2:c.159C>T, XM_011516596.3:c.159C>T, XM_011516596.2:c.159C>T, XM_011516596.1:c.159C>T, XM_017012676.3:c.285C>T, XM_017012676.2:c.285C>T, XM_017012676.1:c.285C>T, XM_011516597.2:c.159C>T, XM_011516597.1:c.159C>T, XM_017012678.2:c.159C>T, XM_017012678.1:c.159C>T, XM_017012680.2:c.159C>T, XM_017012680.1:c.159C>T, XM_017012682.2:c.159C>T, XM_017012682.1:c.159C>T, XM_017012683.2:c.159C>T, XM_017012683.1:c.159C>T, XM_017012677.2:c.168C>T, XM_017012677.1:c.168C>T, XM_017012679.1:c.159C>T, XM_047420910.1:c.297C>T, NM_001363460.1:c.159C>T, XM_047420911.1:c.159C>T

Select item 142623958015.

rs1426239580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71810374 (GRCh38)
7:71275359 (GRCh37)
Canonical SPDI:: NC_000007.14:71810373:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.71810374T>C, NC_000007.13:g.71275359T>C, NM_031468.4:c.620A>G, NM_031468.3:c.620A>G, XM_011516594.4:c.545A>G, XM_011516594.3:c.545A>G, XM_011516594.2:c.545A>G, XM_011516594.1:c.545A>G, NM_001017440.3:c.494A>G, NM_001017440.2:c.494A>G, XM_011516596.3:c.494A>G, XM_011516596.2:c.494A>G, XM_011516596.1:c.494A>G, XM_017012676.3:c.620A>G, XM_017012676.2:c.620A>G, XM_017012676.1:c.620A>G, XM_011516597.2:c.494A>G, XM_011516597.1:c.494A>G, XM_017012678.2:c.494A>G, XM_017012678.1:c.494A>G, XM_017012680.2:c.494A>G, XM_017012680.1:c.494A>G, XM_017012682.2:c.494A>G, XM_017012682.1:c.494A>G, XM_017012683.2:c.494A>G, XM_017012683.1:c.494A>G, XM_017012677.2:c.503A>G, XM_017012677.1:c.503A>G, XM_017012679.1:c.494A>G, XM_047420910.1:c.632A>G, NM_001363460.1:c.494A>G, NP_113656.2:p.Asn207Ser, XP_011514896.1:p.Asn182Ser, NP_001017440.1:p.Asn165Ser, XP_011514898.1:p.Asn165Ser, XP_016868165.1:p.Asn207Ser, XP_011514899.1:p.Asn165Ser, XP_016868167.1:p.Asn165Ser, XP_016868169.1:p.Asn165Ser, XP_016868171.1:p.Asn165Ser, XP_016868172.1:p.Asn165Ser, XP_016868166.1:p.Asn168Ser, XP_016868168.1:p.Asn165Ser, XP_047276866.1:p.Asn211Ser, NP_001350389.1:p.Asn165Ser

Select item 142407225316.

rs1424072253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:72278753 (GRCh38)
7:71743738 (GRCh37)
Canonical SPDI:: NC_000007.14:72278752:G:A,NC_000007.14:72278752:G:T
Gene:: CALN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.72278753G>A, NC_000007.14:g.72278753G>T, NC_000007.13:g.71743738G>A, NC_000007.13:g.71743738G>T, NM_031468.4:c.177C>T, NM_031468.4:c.177C>A, NM_031468.3:c.177C>T, NM_031468.3:c.177C>A, XM_011516594.4:c.102C>T, XM_011516594.4:c.102C>A, XM_011516594.3:c.102C>T, XM_011516594.3:c.102C>A, XM_011516594.2:c.102C>T, XM_011516594.2:c.102C>A, XM_011516594.1:c.102C>T, XM_011516594.1:c.102C>A, NM_001017440.3:c.51C>T, NM_001017440.3:c.51C>A, NM_001017440.2:c.51C>T, NM_001017440.2:c.51C>A, XM_011516596.3:c.51C>T, XM_011516596.3:c.51C>A, XM_011516596.2:c.51C>T, XM_011516596.2:c.51C>A, XM_011516596.1:c.51C>T, XM_011516596.1:c.51C>A, XM_017012676.3:c.177C>T, XM_017012676.3:c.177C>A, XM_017012676.2:c.177C>T, XM_017012676.2:c.177C>A, XM_017012676.1:c.177C>T, XM_017012676.1:c.177C>A, XM_011516597.2:c.51C>T, XM_011516597.2:c.51C>A, XM_011516597.1:c.51C>T, XM_011516597.1:c.51C>A, XM_017012678.2:c.51C>T, XM_017012678.2:c.51C>A, XM_017012678.1:c.51C>T, XM_017012678.1:c.51C>A, XM_017012680.2:c.51C>T, XM_017012680.2:c.51C>A, XM_017012680.1:c.51C>T, XM_017012680.1:c.51C>A, XM_017012682.2:c.51C>T, XM_017012682.2:c.51C>A, XM_017012682.1:c.51C>T, XM_017012682.1:c.51C>A, XM_017012683.2:c.51C>T, XM_017012683.2:c.51C>A, XM_017012683.1:c.51C>T, XM_017012683.1:c.51C>A, XM_017012677.2:c.60C>T, XM_017012677.2:c.60C>A, XM_017012677.1:c.60C>T, XM_017012677.1:c.60C>A, XM_017012679.1:c.51C>T, XM_017012679.1:c.51C>A, XM_047420910.1:c.189C>T, XM_047420910.1:c.189C>A, NM_001363460.1:c.51C>T, NM_001363460.1:c.51C>A, XM_047420911.1:c.51C>T, XM_047420911.1:c.51C>A

Select item 140907924217.

rs1409079242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:72278708 (GRCh38)
7:71743693 (GRCh37)
Canonical SPDI:: NC_000007.14:72278707:A:G
Gene:: CALN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.72278708A>G, NC_000007.13:g.71743693A>G, NM_031468.4:c.222T>C, NM_031468.3:c.222T>C, XM_011516594.4:c.147T>C, XM_011516594.3:c.147T>C, XM_011516594.2:c.147T>C, XM_011516594.1:c.147T>C, NM_001017440.3:c.96T>C, NM_001017440.2:c.96T>C, XM_011516596.3:c.96T>C, XM_011516596.2:c.96T>C, XM_011516596.1:c.96T>C, XM_017012676.3:c.222T>C, XM_017012676.2:c.222T>C, XM_017012676.1:c.222T>C, XM_011516597.2:c.96T>C, XM_011516597.1:c.96T>C, XM_017012678.2:c.96T>C, XM_017012678.1:c.96T>C, XM_017012680.2:c.96T>C, XM_017012680.1:c.96T>C, XM_017012682.2:c.96T>C, XM_017012682.1:c.96T>C, XM_017012683.2:c.96T>C, XM_017012683.1:c.96T>C, XM_017012677.2:c.105T>C, XM_017012677.1:c.105T>C, XM_017012679.1:c.96T>C, XM_047420910.1:c.234T>C, NM_001363460.1:c.96T>C, XM_047420911.1:c.96T>C

Select item 140422550918.

rs1404225509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:72023721 (GRCh38)
7:71488706 (GRCh37)
Canonical SPDI:: NC_000007.14:72023720:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.72023721T>C, NC_000007.13:g.71488706T>C, NM_031468.4:c.437A>G, NM_031468.3:c.437A>G, XM_011516594.4:c.362A>G, XM_011516594.3:c.362A>G, XM_011516594.2:c.362A>G, XM_011516594.1:c.362A>G, NM_001017440.3:c.311A>G, NM_001017440.2:c.311A>G, XM_011516596.3:c.311A>G, XM_011516596.2:c.311A>G, XM_011516596.1:c.311A>G, XM_017012676.3:c.437A>G, XM_017012676.2:c.437A>G, XM_017012676.1:c.437A>G, XM_011516597.2:c.311A>G, XM_011516597.1:c.311A>G, XM_017012678.2:c.311A>G, XM_017012678.1:c.311A>G, XM_017012680.2:c.311A>G, XM_017012680.1:c.311A>G, XM_017012682.2:c.311A>G, XM_017012682.1:c.311A>G, XM_017012683.2:c.311A>G, XM_017012683.1:c.311A>G, XM_017012677.2:c.320A>G, XM_017012677.1:c.320A>G, XM_017012679.1:c.311A>G, XM_047420910.1:c.449A>G, NM_001363460.1:c.311A>G, XM_047420911.1:c.311A>G, NP_113656.2:p.Lys146Arg, XP_011514896.1:p.Lys121Arg, NP_001017440.1:p.Lys104Arg, XP_011514898.1:p.Lys104Arg, XP_016868165.1:p.Lys146Arg, XP_011514899.1:p.Lys104Arg, XP_016868167.1:p.Lys104Arg, XP_016868169.1:p.Lys104Arg, XP_016868171.1:p.Lys104Arg, XP_016868172.1:p.Lys104Arg, XP_016868166.1:p.Lys107Arg, XP_016868168.1:p.Lys104Arg, XP_047276866.1:p.Lys150Arg, NP_001350389.1:p.Lys104Arg, XP_047276867.1:p.Lys104Arg

Select item 138773475219.

rs1387734752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:72106159 (GRCh38)
7:71571144 (GRCh37)
Canonical SPDI:: NC_000007.14:72106158:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.72106159T>C, NC_000007.13:g.71571144T>C, NM_031468.4:c.380A>G, NM_031468.3:c.380A>G, XM_011516594.4:c.305A>G, XM_011516594.3:c.305A>G, XM_011516594.2:c.305A>G, XM_011516594.1:c.305A>G, NM_001017440.3:c.254A>G, NM_001017440.2:c.254A>G, XM_011516596.3:c.254A>G, XM_011516596.2:c.254A>G, XM_011516596.1:c.254A>G, XM_017012676.3:c.380A>G, XM_017012676.2:c.380A>G, XM_017012676.1:c.380A>G, XM_011516597.2:c.254A>G, XM_011516597.1:c.254A>G, XM_017012678.2:c.254A>G, XM_017012678.1:c.254A>G, XM_017012680.2:c.254A>G, XM_017012680.1:c.254A>G, XM_017012682.2:c.254A>G, XM_017012682.1:c.254A>G, XM_017012683.2:c.254A>G, XM_017012683.1:c.254A>G, XM_017012677.2:c.263A>G, XM_017012677.1:c.263A>G, XM_017012679.1:c.254A>G, XM_047420910.1:c.392A>G, NM_001363460.1:c.254A>G, XM_047420911.1:c.254A>G, NP_113656.2:p.Asp127Gly, XP_011514896.1:p.Asp102Gly, NP_001017440.1:p.Asp85Gly, XP_011514898.1:p.Asp85Gly, XP_016868165.1:p.Asp127Gly, XP_011514899.1:p.Asp85Gly, XP_016868167.1:p.Asp85Gly, XP_016868169.1:p.Asp85Gly, XP_016868171.1:p.Asp85Gly, XP_016868172.1:p.Asp85Gly, XP_016868166.1:p.Asp88Gly, XP_016868168.1:p.Asp85Gly, XP_047276866.1:p.Asp131Gly, NP_001350389.1:p.Asp85Gly, XP_047276867.1:p.Asp85Gly

Select item 138689480120.

rs1386894801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:72106247 (GRCh38)
7:71571232 (GRCh37)
Canonical SPDI:: NC_000007.14:72106246:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.72106247T>C, NC_000007.13:g.71571232T>C, NM_031468.4:c.292A>G, NM_031468.3:c.292A>G, XM_011516594.4:c.217A>G, XM_011516594.3:c.217A>G, XM_011516594.2:c.217A>G, XM_011516594.1:c.217A>G, NM_001017440.3:c.166A>G, NM_001017440.2:c.166A>G, XM_011516596.3:c.166A>G, XM_011516596.2:c.166A>G, XM_011516596.1:c.166A>G, XM_017012676.3:c.292A>G, XM_017012676.2:c.292A>G, XM_017012676.1:c.292A>G, XM_011516597.2:c.166A>G, XM_011516597.1:c.166A>G, XM_017012678.2:c.166A>G, XM_017012678.1:c.166A>G, XM_017012680.2:c.166A>G, XM_017012680.1:c.166A>G, XM_017012682.2:c.166A>G, XM_017012682.1:c.166A>G, XM_017012683.2:c.166A>G, XM_017012683.1:c.166A>G, XM_017012677.2:c.175A>G, XM_017012677.1:c.175A>G, XM_017012679.1:c.166A>G, XM_047420910.1:c.304A>G, NM_001363460.1:c.166A>G, XM_047420911.1:c.166A>G, NP_113656.2:p.Ile98Val, XP_011514896.1:p.Ile73Val, NP_001017440.1:p.Ile56Val, XP_011514898.1:p.Ile56Val, XP_016868165.1:p.Ile98Val, XP_011514899.1:p.Ile56Val, XP_016868167.1:p.Ile56Val, XP_016868169.1:p.Ile56Val, XP_016868171.1:p.Ile56Val, XP_016868172.1:p.Ile56Val, XP_016868166.1:p.Ile59Val, XP_016868168.1:p.Ile56Val, XP_047276866.1:p.Ile102Val, NP_001350389.1:p.Ile56Val, XP_047276867.1:p.Ile56Val

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