SNP Links for Protein (Select 171542821) - SNP

Links from Protein

Items: 1 to 20 of 363

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Select item 14878268541.

rs1487826854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:20501215 (GRCh38)
1:20827708 (GRCh37)
Canonical SPDI:: NC_000001.11:20501214:C:A
Gene:: MUL1 (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=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.20501215C>A, NC_000001.10:g.20827708C>A, XM_011542137.3:c.417G>T, XM_011542137.2:c.417G>T, XM_011542137.1:c.417G>T, NM_024544.3:c.534G>T, NM_024544.2:c.534G>T

Select item 14875985272.

rs1487598527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20501287 (GRCh38)
1:20827780 (GRCh37)
Canonical SPDI:: NC_000001.11:20501286:A:G
Gene:: MUL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20501287A>G, NC_000001.10:g.20827780A>G, XM_011542137.3:c.345T>C, XM_011542137.2:c.345T>C, XM_011542137.1:c.345T>C, NM_024544.3:c.462T>C, NM_024544.2:c.462T>C

Select item 14861207403.

rs1486120740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:20501169 (GRCh38)
1:20827662 (GRCh37)
Canonical SPDI:: NC_000001.11:20501168:T:A,NC_000001.11:20501168:T:C
Gene:: MUL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20501169T>A, NC_000001.11:g.20501169T>C, NC_000001.10:g.20827662T>A, NC_000001.10:g.20827662T>C, XM_011542137.3:c.463A>T, XM_011542137.3:c.463A>G, XM_011542137.2:c.463A>T, XM_011542137.2:c.463A>G, XM_011542137.1:c.463A>T, XM_011542137.1:c.463A>G, NM_024544.3:c.580A>T, NM_024544.3:c.580A>G, NM_024544.2:c.580A>T, NM_024544.2:c.580A>G, XP_011540439.1:p.Thr155Ser, XP_011540439.1:p.Thr155Ala, NP_078820.2:p.Thr194Ser, NP_078820.2:p.Thr194Ala

Select item 14732745534.

rs1473274553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20503248 (GRCh38)
1:20829741 (GRCh37)
Canonical SPDI:: NC_000001.11:20503247:T:C
Gene:: MUL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20503248T>C, NC_000001.10:g.20829741T>C, XM_011542137.3:c.65A>G, XM_011542137.2:c.65A>G, XM_011542137.1:c.65A>G, NM_024544.3:c.182A>G, NM_024544.2:c.182A>G, XP_011540439.1:p.Lys22Arg, NP_078820.2:p.Lys61Arg

Select item 14698700775.

rs1469870077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20507999 (GRCh38)
1:20834492 (GRCh37)
Canonical SPDI:: NC_000001.11:20507998:A:G
Gene:: MUL1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20507999A>G, NC_000001.10:g.20834492A>G, XM_011542137.3:c.-473T>C, XM_011542137.2:c.-473T>C, NM_024544.3:c.26T>C, NM_024544.2:c.26T>C, NP_078820.2:p.Leu9Pro

Select item 14681335166.

rs1468133516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:20500952 (GRCh38)
1:20827445 (GRCh37)
Canonical SPDI:: NC_000001.11:20500951:C:A,NC_000001.11:20500951:C:T
Gene:: MUL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20500952C>A, NC_000001.11:g.20500952C>T, NC_000001.10:g.20827445C>A, NC_000001.10:g.20827445C>T, XM_011542137.3:c.680G>T, XM_011542137.3:c.680G>A, XM_011542137.2:c.680G>T, XM_011542137.2:c.680G>A, XM_011542137.1:c.680G>T, XM_011542137.1:c.680G>A, NM_024544.3:c.797G>T, NM_024544.3:c.797G>A, NM_024544.2:c.797G>T, NM_024544.2:c.797G>A, XP_011540439.1:p.Arg227Leu, XP_011540439.1:p.Arg227Gln, NP_078820.2:p.Arg266Leu, NP_078820.2:p.Arg266Gln

Select item 14582096507.

rs1458209650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20501042 (GRCh38)
1:20827535 (GRCh37)
Canonical SPDI:: NC_000001.11:20501041:C:T
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.20501042C>T, NC_000001.10:g.20827535C>T, XM_011542137.3:c.590G>A, XM_011542137.2:c.590G>A, XM_011542137.1:c.590G>A, NM_024544.3:c.707G>A, NM_024544.2:c.707G>A, XP_011540439.1:p.Ser197Asn, NP_078820.2:p.Ser236Asn

Select item 14561005928.

rs1456100592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:20501330 (GRCh38)
1:20827823 (GRCh37)
Canonical SPDI:: NC_000001.11:20501329:C:A,NC_000001.11:20501329:C:T
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000001.11:g.20501330C>A, NC_000001.11:g.20501330C>T, NC_000001.10:g.20827823C>A, NC_000001.10:g.20827823C>T, XM_011542137.3:c.302G>T, XM_011542137.3:c.302G>A, XM_011542137.2:c.302G>T, XM_011542137.2:c.302G>A, XM_011542137.1:c.302G>T, XM_011542137.1:c.302G>A, NM_024544.3:c.419G>T, NM_024544.3:c.419G>A, NM_024544.2:c.419G>T, NM_024544.2:c.419G>A, XP_011540439.1:p.Arg101Leu, XP_011540439.1:p.Arg101Gln, NP_078820.2:p.Arg140Leu, NP_078820.2:p.Arg140Gln

Select item 14537099729.

rs1453709972 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCTC [Show Flanks]
Chromosome:: 1:20500878 (GRCh38)
1:20827372 (GRCh37)
Canonical SPDI:: NC_000001.11:20500878:GGCTCGGCTC:GGCTCGGCTCGGCTC
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGCTCGGCTCGGCTC=0./0 (ALFA)
GGCTC=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20500879GGCTC[3], NC_000001.10:g.20827372GGCTC[3], XM_011542137.3:c.749_753dup, XM_011542137.2:c.749_753dup, XM_011542137.1:c.749_753dup, NM_024544.3:c.866_870dup, NM_024544.2:c.866_870dup, XP_011540439.1:p.Lys252fs, NP_078820.2:p.Lys291fs

Select item 145114515310.

rs1451145153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:20501070 (GRCh38)
1:20827563 (GRCh37)
Canonical SPDI:: NC_000001.11:20501069:C:G,NC_000001.11:20501069:C:T
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20501070C>G, NC_000001.11:g.20501070C>T, NC_000001.10:g.20827563C>G, NC_000001.10:g.20827563C>T, XM_011542137.3:c.562G>C, XM_011542137.3:c.562G>A, XM_011542137.2:c.562G>C, XM_011542137.2:c.562G>A, XM_011542137.1:c.562G>C, XM_011542137.1:c.562G>A, NM_024544.3:c.679G>C, NM_024544.3:c.679G>A, NM_024544.2:c.679G>C, NM_024544.2:c.679G>A, XP_011540439.1:p.Asp188His, XP_011540439.1:p.Asp188Asn, NP_078820.2:p.Asp227His, NP_078820.2:p.Asp227Asn

Select item 144921457311.

rs1449214573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:20503280 (GRCh38)
1:20829773 (GRCh37)
Canonical SPDI:: NC_000001.11:20503279:A:C
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.20503280A>C, NC_000001.10:g.20829773A>C, XM_011542137.3:c.33T>G, XM_011542137.2:c.33T>G, XM_011542137.1:c.33T>G, NM_024544.3:c.150T>G, NM_024544.2:c.150T>G, XP_011540439.1:p.Asp11Glu, NP_078820.2:p.Asp50Glu

Select item 144728519512.

rs1447285195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20501064 (GRCh38)
1:20827557 (GRCh37)
Canonical SPDI:: NC_000001.11:20501063:G:A
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.20501064G>A, NC_000001.10:g.20827557G>A, XM_011542137.3:c.568C>T, XM_011542137.2:c.568C>T, XM_011542137.1:c.568C>T, NM_024544.3:c.685C>T, NM_024544.2:c.685C>T

Select item 144725391313.

rs1447253913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:20500740 (GRCh38)
1:20827233 (GRCh37)
Canonical SPDI:: NC_000001.11:20500739:G:T
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20500740G>T, NC_000001.10:g.20827233G>T, XM_011542137.3:c.892C>A, XM_011542137.2:c.892C>A, XM_011542137.1:c.892C>A, NM_024544.3:c.1009C>A, NM_024544.2:c.1009C>A, XP_011540439.1:p.Pro298Thr, NP_078820.2:p.Pro337Thr

Select item 144307186514.

rs1443071865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20507978 (GRCh38)
1:20834471 (GRCh37)
Canonical SPDI:: NC_000001.11:20507977:C:T
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.20507978C>T, NC_000001.10:g.20834471C>T, XM_011542137.3:c.-452G>A, XM_011542137.2:c.-452G>A, NM_024544.3:c.47G>A, NM_024544.2:c.47G>A, NP_078820.2:p.Gly16Asp

Select item 143935870615.

rs1439358706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20503241 (GRCh38)
1:20829734 (GRCh37)
Canonical SPDI:: NC_000001.11:20503240:C:T
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20503241C>T, NC_000001.10:g.20829734C>T, XM_011542137.3:c.72G>A, XM_011542137.2:c.72G>A, XM_011542137.1:c.72G>A, NM_024544.3:c.189G>A, NM_024544.2:c.189G>A

Select item 143655826116.

rs1436558261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:20508002 (GRCh38)
1:20834495 (GRCh37)
Canonical SPDI:: NC_000001.11:20508001:G:C,NC_000001.11:20508001:G:T
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.20508002G>C, NC_000001.11:g.20508002G>T, NC_000001.10:g.20834495G>C, NC_000001.10:g.20834495G>T, XM_011542137.3:c.-476C>G, XM_011542137.3:c.-476C>A, XM_011542137.2:c.-476C>G, XM_011542137.2:c.-476C>A, NM_024544.3:c.23C>G, NM_024544.3:c.23C>A, NM_024544.2:c.23C>G, NM_024544.2:c.23C>A, NP_078820.2:p.Ser8Trp, NP_078820.2:p.Ser8Ter

Select item 142948135217.

rs1429481352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:20507981 (GRCh38)
1:20834474 (GRCh37)
Canonical SPDI:: NC_000001.11:20507980:A:T
Gene:: MUL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.20507981A>T, NC_000001.10:g.20834474A>T, XM_011542137.3:c.-455T>A, XM_011542137.2:c.-455T>A, NM_024544.3:c.44T>A, NM_024544.2:c.44T>A, NP_078820.2:p.Leu15Gln

Select item 142720871218.

rs1427208712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:20500886 (GRCh38)
1:20827379 (GRCh37)
Canonical SPDI:: NC_000001.11:20500885:C:G
Gene:: MUL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.20500886C>G, NC_000001.10:g.20827379C>G, XM_011542137.3:c.746G>C, XM_011542137.2:c.746G>C, XM_011542137.1:c.746G>C, NM_024544.3:c.863G>C, NM_024544.2:c.863G>C, XP_011540439.1:p.Ser249Thr, NP_078820.2:p.Ser288Thr

Select item 142250382919.

rs1422503829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20500783 (GRCh38)
1:20827276 (GRCh37)
Canonical SPDI:: NC_000001.11:20500782:G:A
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20500783G>A, NC_000001.10:g.20827276G>A, XM_011542137.3:c.849C>T, XM_011542137.2:c.849C>T, XM_011542137.1:c.849C>T, NM_024544.3:c.966C>T, NM_024544.2:c.966C>T

Select item 142165430520.

rs1421654305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20503254 (GRCh38)
1:20829747 (GRCh37)
Canonical SPDI:: NC_000001.11:20503253:G:A
Gene:: MUL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20503254G>A, NC_000001.10:g.20829747G>A, XM_011542137.3:c.59C>T, XM_011542137.2:c.59C>T, XM_011542137.1:c.59C>T, NM_024544.3:c.176C>T, NM_024544.2:c.176C>T, XP_011540439.1:p.Pro20Leu, NP_078820.2:p.Pro59Leu

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