SNP Links for Protein (Select 283046778) - SNP

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Links from Protein

Items: 1 to 20 of 462

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Select item 14877541481.

rs1487754148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61484723 (GRCh38)
11:61252195 (GRCh37)
Canonical SPDI:: NC_000011.10:61484722:G:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61484723G>A, NC_000011.9:g.61252195G>A, NM_145017.3:c.417G>A, NM_145017.2:c.417G>A, NM_001170753.2:c.417G>A, NM_001170753.1:c.417G>A

Select item 14867733712.

rs1486773371 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:61490544 (GRCh38)
11:61258016 (GRCh37)
Canonical SPDI:: NC_000011.10:61490543:A:T
Gene:: PPP1R32 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61490544A>T, NC_000011.9:g.61258016A>T, NM_145017.3:c.1252A>T, NM_145017.2:c.1252A>T, NM_001170753.2:c.1192A>T, NM_001170753.1:c.1192A>T, NP_659454.2:p.Ser418Cys, NP_001164224.1:p.Ser398Cys

Select item 14830370723.

rs1483037072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61482791 (GRCh38)
11:61250263 (GRCh37)
Canonical SPDI:: NC_000011.10:61482790:G:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.61482791G>A, NC_000011.9:g.61250263G>A, NG_074577.1:g.335G>A, NM_145017.3:c.364G>A, NM_145017.2:c.364G>A, NM_001170753.2:c.364G>A, NM_001170753.1:c.364G>A, NP_659454.2:p.Gly122Ser, NP_001164224.1:p.Gly122Ser

Select item 14815565014.

rs1481556501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:61482397 (GRCh38)
11:61249869 (GRCh37)
Canonical SPDI:: NC_000011.10:61482396:A:C,NC_000011.10:61482396:A:G
Gene:: PPP1R32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61482397A>C, NC_000011.10:g.61482397A>G, NC_000011.9:g.61249869A>C, NC_000011.9:g.61249869A>G, NM_145017.3:c.196A>C, NM_145017.3:c.196A>G, NM_145017.2:c.196A>C, NM_145017.2:c.196A>G, NM_001170753.2:c.196A>C, NM_001170753.2:c.196A>G, NM_001170753.1:c.196A>C, NM_001170753.1:c.196A>G, NP_659454.2:p.Ser66Arg, NP_659454.2:p.Ser66Gly, NP_001164224.1:p.Ser66Arg, NP_001164224.1:p.Ser66Gly

Select item 14803425535.

rs1480342553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61486356 (GRCh38)
11:61253828 (GRCh37)
Canonical SPDI:: NC_000011.10:61486355:G:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61486356G>A, NC_000011.9:g.61253828G>A, NM_145017.3:c.700G>A, NM_145017.2:c.700G>A, NP_659454.2:p.Gly234Ser

Select item 14731981126.

rs1473198112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61489815 (GRCh38)
11:61257287 (GRCh37)
Canonical SPDI:: NC_000011.10:61489814:G:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.61489815G>A, NC_000011.9:g.61257287G>A, NM_145017.3:c.1077G>A, NM_145017.2:c.1077G>A, NM_001170753.2:c.1017G>A, NM_001170753.1:c.1017G>A

Select item 14724392557.

rs1472439255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61482709 (GRCh38)
11:61250181 (GRCh37)
Canonical SPDI:: NC_000011.10:61482708:G:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61482709G>A, NC_000011.9:g.61250181G>A, NG_074577.1:g.253G>A, NM_145017.3:c.282G>A, NM_145017.2:c.282G>A, NM_001170753.2:c.282G>A, NM_001170753.1:c.282G>A

Select item 14702072058.

rs1470207205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61489945 (GRCh38)
11:61257417 (GRCh37)
Canonical SPDI:: NC_000011.10:61489944:A:G
Gene:: PPP1R32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61489945A>G, NC_000011.9:g.61257417A>G, NM_145017.3:c.1207A>G, NM_145017.2:c.1207A>G, NM_001170753.2:c.1147A>G, NM_001170753.1:c.1147A>G, NP_659454.2:p.Arg403Gly, NP_001164224.1:p.Arg383Gly

Select item 14665412199.

rs1466541219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 11:61486371 (GRCh38)
11:61253843 (GRCh37)
Canonical SPDI:: NC_000011.10:61486370:A:C,NC_000011.10:61486370:A:G,NC_000011.10:61486370:A:T
Gene:: PPP1R32 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61486371A>C, NC_000011.10:g.61486371A>G, NC_000011.10:g.61486371A>T, NC_000011.9:g.61253843A>C, NC_000011.9:g.61253843A>G, NC_000011.9:g.61253843A>T, NM_145017.3:c.715A>C, NM_145017.3:c.715A>G, NM_145017.3:c.715A>T, NM_145017.2:c.715A>C, NM_145017.2:c.715A>G, NM_145017.2:c.715A>T, NP_659454.2:p.Lys239Gln, NP_659454.2:p.Lys239Glu, NP_659454.2:p.Lys239Ter

Select item 146349753510.

rs1463497535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:61481880 (GRCh38)
11:61249352 (GRCh37)
Canonical SPDI:: NC_000011.10:61481879:C:G
Gene:: PPP1R32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61481880C>G, NC_000011.9:g.61249352C>G, NM_145017.3:c.71C>G, NM_145017.2:c.71C>G, NM_001170753.2:c.71C>G, NM_001170753.1:c.71C>G, NP_659454.2:p.Pro24Arg, NP_001164224.1:p.Pro24Arg

Select item 146052800511.

rs1460528005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:61487165 (GRCh38)
11:61254637 (GRCh37)
Canonical SPDI:: NC_000011.10:61487164:T:G
Gene:: PPP1R32 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61487165T>G, NC_000011.9:g.61254637T>G, NM_145017.3:c.968T>G, NM_145017.2:c.968T>G, NM_001170753.2:c.908T>G, NM_001170753.1:c.908T>G, NP_659454.2:p.Leu323Arg, NP_001164224.1:p.Leu303Arg

Select item 145639512312.

rs1456395123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:61482784 (GRCh38)
11:61250256 (GRCh37)
Canonical SPDI:: NC_000011.10:61482783:C:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.61482784C>A, NC_000011.9:g.61250256C>A, NG_074577.1:g.328C>A, NM_145017.3:c.357C>A, NM_145017.2:c.357C>A, NM_001170753.2:c.357C>A, NM_001170753.1:c.357C>A

Select item 145299917813.

rs1452999178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:61486345 (GRCh38)
11:61253817 (GRCh37)
Canonical SPDI:: NC_000011.10:61486344:C:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.61486345C>A, NC_000011.9:g.61253817C>A, NM_145017.3:c.689C>A, NM_145017.2:c.689C>A, NP_659454.2:p.Ala230Asp

Select item 145282059514.

rs1452820595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:61489886 (GRCh38)
11:61257358 (GRCh37)
Canonical SPDI:: NC_000011.10:61489885:G:A,NC_000011.10:61489885:G:T
Gene:: PPP1R32 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61489886G>A, NC_000011.10:g.61489886G>T, NC_000011.9:g.61257358G>A, NC_000011.9:g.61257358G>T, NM_145017.3:c.1148G>A, NM_145017.3:c.1148G>T, NM_145017.2:c.1148G>A, NM_145017.2:c.1148G>T, NM_001170753.2:c.1088G>A, NM_001170753.2:c.1088G>T, NM_001170753.1:c.1088G>A, NM_001170753.1:c.1088G>T, NP_659454.2:p.Cys383Tyr, NP_659454.2:p.Cys383Phe, NP_001164224.1:p.Cys363Tyr, NP_001164224.1:p.Cys363Phe

Select item 145209828215.

rs1452098282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:61487204 (GRCh38)
11:61254676 (GRCh37)
Canonical SPDI:: NC_000011.10:61487203:A:T
Gene:: PPP1R32 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61487204A>T, NC_000011.9:g.61254676A>T, NM_145017.3:c.1007A>T, NM_145017.2:c.1007A>T, NM_001170753.2:c.947A>T, NM_001170753.1:c.947A>T, NP_659454.2:p.Asp336Val, NP_001164224.1:p.Asp316Val

Select item 144798940516.

rs1447989405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61482748 (GRCh38)
11:61250220 (GRCh37)
Canonical SPDI:: NC_000011.10:61482747:G:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61482748G>A, NC_000011.9:g.61250220G>A, NG_074577.1:g.292G>A, NM_145017.3:c.321G>A, NM_145017.2:c.321G>A, NM_001170753.2:c.321G>A, NM_001170753.1:c.321G>A, NP_659454.2:p.Met107Ile, NP_001164224.1:p.Met107Ile

Select item 144557546817.

rs1445575468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61489899 (GRCh38)
11:61257371 (GRCh37)
Canonical SPDI:: NC_000011.10:61489898:C:T
Gene:: PPP1R32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.61489899C>T, NC_000011.9:g.61257371C>T, NM_145017.3:c.1161C>T, NM_145017.2:c.1161C>T, NM_001170753.2:c.1101C>T, NM_001170753.1:c.1101C>T

Select item 144449972118.

rs1444499721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61484774 (GRCh38)
11:61252246 (GRCh37)
Canonical SPDI:: NC_000011.10:61484773:G:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.61484774G>A, NC_000011.9:g.61252246G>A, NM_145017.3:c.468G>A, NM_145017.2:c.468G>A, NM_001170753.2:c.468G>A, NM_001170753.1:c.468G>A

Select item 144366900819.

rs1443669008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61481833 (GRCh38)
11:61249305 (GRCh37)
Canonical SPDI:: NC_000011.10:61481832:G:A
Gene:: PPP1R32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.61481833G>A, NC_000011.9:g.61249305G>A, NM_145017.3:c.24G>A, NM_145017.2:c.24G>A, NM_001170753.2:c.24G>A, NM_001170753.1:c.24G>A

Select item 144215466620.

rs1442154666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61489857 (GRCh38)
11:61257329 (GRCh37)
Canonical SPDI:: NC_000011.10:61489856:A:G
Gene:: PPP1R32 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.61489857A>G, NC_000011.9:g.61257329A>G, NM_145017.3:c.1119A>G, NM_145017.2:c.1119A>G, NM_001170753.2:c.1059A>G, NM_001170753.1:c.1059A>G

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