SNP Links for Protein (Select 662033925) - SNP

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Links from Protein

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Select item 14908475781.

rs1490847578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:160211562 (GRCh38)
1:160181352 (GRCh37)
Canonical SPDI:: NC_000001.11:160211561:C:A
Gene:: PEA15 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160211562C>A, NC_000001.10:g.160181352C>A, NM_003768.5:c.18C>A, NM_003768.4:c.18C>A, NM_003768.3:c.18C>A, NM_001297576.2:c.81C>A, NM_001297576.1:c.81C>A, NM_001297577.2:c.18C>A, NM_001297577.1:c.18C>A, NM_001297578.2:c.18C>A, NM_001297578.1:c.18C>A, XM_047433391.1:c.81C>A

Select item 14758625452.

rs1475862545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160211574 (GRCh38)
1:160181364 (GRCh37)
Canonical SPDI:: NC_000001.11:160211573:C:T
Gene:: PEA15 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160211574C>T, NC_000001.10:g.160181364C>T, NM_003768.5:c.30C>T, NM_003768.4:c.30C>T, NM_003768.3:c.30C>T, NM_001297576.2:c.93C>T, NM_001297576.1:c.93C>T, NM_001297577.2:c.30C>T, NM_001297577.1:c.30C>T, NM_001297578.2:c.30C>T, NM_001297578.1:c.30C>T, XM_047433391.1:c.93C>T

Select item 14757232823.

rs1475723282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160213453 (GRCh38)
1:160183243 (GRCh37)
Canonical SPDI:: NC_000001.11:160213452:C:T
Gene:: PEA15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160213453C>T, NC_000001.10:g.160183243C>T, NM_003768.5:c.360C>T, NM_003768.4:c.360C>T, NM_003768.3:c.360C>T, NM_001297576.2:c.423C>T, NM_001297576.1:c.423C>T, NM_001297577.2:c.360C>T, NM_001297577.1:c.360C>T, NM_001297578.2:c.294C>T, NM_001297578.1:c.294C>T, NR_123724.2:n.327C>T, NR_123724.1:n.392C>T, XM_047433391.1:c.423C>T

Select item 14689569724.

rs1468956972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160213123 (GRCh38)
1:160182913 (GRCh37)
Canonical SPDI:: NC_000001.11:160213122:C:T
Gene:: PEA15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.160213123C>T, NC_000001.10:g.160182913C>T, NM_003768.5:c.186C>T, NM_003768.4:c.186C>T, NM_003768.3:c.186C>T, NM_001297576.2:c.249C>T, NM_001297576.1:c.249C>T, NM_001297577.2:c.186C>T, NM_001297577.1:c.186C>T, NM_001297578.2:c.120C>T, NM_001297578.1:c.120C>T, NR_123724.2:n.153C>T, NR_123724.1:n.218C>T, XM_047433391.1:c.249C>T

Select item 14656461015.

rs1465646101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160213238 (GRCh38)
1:160183028 (GRCh37)
Canonical SPDI:: NC_000001.11:160213237:C:T
Gene:: PEA15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.160213238C>T, NC_000001.10:g.160183028C>T, NM_003768.5:c.301C>T, NM_003768.4:c.301C>T, NM_003768.3:c.301C>T, NM_001297576.2:c.364C>T, NM_001297576.1:c.364C>T, NM_001297577.2:c.301C>T, NM_001297577.1:c.301C>T, NM_001297578.2:c.235C>T, NM_001297578.1:c.235C>T, NR_123724.2:n.268C>T, NR_123724.1:n.333C>T, XM_047433391.1:c.364C>T, NP_003759.1:p.Arg101Cys, NP_001284505.1:p.Arg122Cys, NP_001284506.1:p.Arg101Cys, NP_001284507.1:p.Arg79Cys, XP_047289347.1:p.Arg122Cys

Select item 14635683546.

rs1463568354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:160211564 (GRCh38)
1:160181354 (GRCh37)
Canonical SPDI:: NC_000001.11:160211563:T:G
Gene:: PEA15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.160211564T>G, NC_000001.10:g.160181354T>G, NM_003768.5:c.20T>G, NM_003768.4:c.20T>G, NM_003768.3:c.20T>G, NM_001297576.2:c.83T>G, NM_001297576.1:c.83T>G, NM_001297577.2:c.20T>G, NM_001297577.1:c.20T>G, NM_001297578.2:c.20T>G, NM_001297578.1:c.20T>G, XM_047433391.1:c.83T>G, NP_003759.1:p.Leu7Arg, NP_001284505.1:p.Leu28Arg, NP_001284506.1:p.Leu7Arg, NP_001284507.1:p.Leu7Arg, XP_047289347.1:p.Leu28Arg

Select item 14608318247.

rs1460831824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160213239 (GRCh38)
1:160183029 (GRCh37)
Canonical SPDI:: NC_000001.11:160213238:G:A
Gene:: PEA15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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)
A=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.160213239G>A, NC_000001.10:g.160183029G>A, NM_003768.5:c.302G>A, NM_003768.4:c.302G>A, NM_003768.3:c.302G>A, NM_001297576.2:c.365G>A, NM_001297576.1:c.365G>A, NM_001297577.2:c.302G>A, NM_001297577.1:c.302G>A, NM_001297578.2:c.236G>A, NM_001297578.1:c.236G>A, NR_123724.2:n.269G>A, NR_123724.1:n.334G>A, XM_047433391.1:c.365G>A, NP_003759.1:p.Arg101His, NP_001284505.1:p.Arg122His, NP_001284506.1:p.Arg101His, NP_001284507.1:p.Arg79His, XP_047289347.1:p.Arg122His

Select item 14533599508.

rs1453359950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160213431 (GRCh38)
1:160183221 (GRCh37)
Canonical SPDI:: NC_000001.11:160213430:G:A
Gene:: PEA15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160213431G>A, NC_000001.10:g.160183221G>A, NM_003768.5:c.338G>A, NM_003768.4:c.338G>A, NM_003768.3:c.338G>A, NM_001297576.2:c.401G>A, NM_001297576.1:c.401G>A, NM_001297577.2:c.338G>A, NM_001297577.1:c.338G>A, NM_001297578.2:c.272G>A, NM_001297578.1:c.272G>A, NR_123724.2:n.305G>A, NR_123724.1:n.370G>A, XM_047433391.1:c.401G>A, NP_003759.1:p.Arg113Gln, NP_001284505.1:p.Arg134Gln, NP_001284506.1:p.Arg113Gln, NP_001284507.1:p.Arg91Gln, XP_047289347.1:p.Arg134Gln

Select item 14448805739.

rs1444880573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:160213207 (GRCh38)
1:160182997 (GRCh37)
Canonical SPDI:: NC_000001.11:160213206:T:G
Gene:: PEA15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160213207T>G, NC_000001.10:g.160182997T>G, NM_003768.5:c.270T>G, NM_003768.4:c.270T>G, NM_003768.3:c.270T>G, NM_001297576.2:c.333T>G, NM_001297576.1:c.333T>G, NM_001297577.2:c.270T>G, NM_001297577.1:c.270T>G, NM_001297578.2:c.204T>G, NM_001297578.1:c.204T>G, NR_123724.2:n.237T>G, NR_123724.1:n.302T>G, XM_047433391.1:c.333T>G

Select item 143904845710.

rs1439048457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160211602 (GRCh38)
1:160181392 (GRCh37)
Canonical SPDI:: NC_000001.11:160211601:C:G
Gene:: PEA15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160211602C>G, NC_000001.10:g.160181392C>G, NM_003768.5:c.58C>G, NM_003768.4:c.58C>G, NM_003768.3:c.58C>G, NM_001297576.2:c.121C>G, NM_001297576.1:c.121C>G, NM_001297577.2:c.58C>G, NM_001297577.1:c.58C>G, NM_001297578.2:c.58C>G, NM_001297578.1:c.58C>G, XM_047433391.1:c.121C>G, NP_003759.1:p.Leu20Val, NP_001284505.1:p.Leu41Val, NP_001284506.1:p.Leu20Val, NP_001284507.1:p.Leu20Val, XP_047289347.1:p.Leu41Val

Select item 143706131611.

rs1437061316 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCA>- [Show Flanks]
Chromosome:: 1:160213455 (GRCh38)
1:160183245 (GRCh37)
Canonical SPDI:: NC_000001.11:160213450:ATCATCA:ATCA
Gene:: PEA15 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: ATCA=0./0 (ALFA)
-=0.000016/4 (GnomAD_exomes)
-=0.000072/19 (TOPMED)
-=0.000086/12 (GnomAD)
HGVS:: NC_000001.11:g.160213452TCA[1], NC_000001.10:g.160183242TCA[1], NM_003768.5:c.359TCA[1], NM_003768.4:c.359TCA[1], NM_003768.3:c.359TCA[1], NM_001297576.2:c.422TCA[1], NM_001297576.1:c.422TCA[1], NM_001297577.2:c.359TCA[1], NM_001297577.1:c.359TCA[1], NM_001297578.2:c.293TCA[1], NM_001297578.1:c.293TCA[1], NR_123724.2:n.326TCA[1], NR_123724.1:n.391TCA[1], XM_047433391.1:c.422TCA[1], NP_003759.1:p.Ile121del, NP_001284505.1:p.Ile142del, NP_001284506.1:p.Ile121del, NP_001284507.1:p.Ile99del, XP_047289347.1:p.Ile142del

Select item 142685041112.

rs1426850411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160213111 (GRCh38)
1:160182901 (GRCh37)
Canonical SPDI:: NC_000001.11:160213110:C:T
Gene:: PEA15 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160213111C>T, NC_000001.10:g.160182901C>T, NM_003768.5:c.174C>T, NM_003768.4:c.174C>T, NM_003768.3:c.174C>T, NM_001297576.2:c.237C>T, NM_001297576.1:c.237C>T, NM_001297577.2:c.174C>T, NM_001297577.1:c.174C>T, NM_001297578.2:c.108C>T, NM_001297578.1:c.108C>T, NR_123724.2:n.141C>T, NR_123724.1:n.206C>T, XM_047433391.1:c.237C>T

Select item 142267401213.

rs1422674012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160211589 (GRCh38)
1:160181379 (GRCh37)
Canonical SPDI:: NC_000001.11:160211588:C:T
Gene:: PEA15 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160211589C>T, NC_000001.10:g.160181379C>T, NM_003768.5:c.45C>T, NM_003768.4:c.45C>T, NM_003768.3:c.45C>T, NM_001297576.2:c.108C>T, NM_001297576.1:c.108C>T, NM_001297577.2:c.45C>T, NM_001297577.1:c.45C>T, NM_001297578.2:c.45C>T, NM_001297578.1:c.45C>T, XM_047433391.1:c.108C>T

Select item 140664864714.

rs1406648647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160211639 (GRCh38)
1:160181429 (GRCh37)
Canonical SPDI:: NC_000001.11:160211638:C:T
Gene:: PEA15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160211639C>T, NC_000001.10:g.160181429C>T, NM_003768.5:c.95C>T, NM_003768.4:c.95C>T, NM_003768.3:c.95C>T, NM_001297576.2:c.158C>T, NM_001297576.1:c.158C>T, NM_001297577.2:c.95C>T, NM_001297577.1:c.95C>T, NM_001297578.2:c.95C>T, NM_001297578.1:c.95C>T, XM_047433391.1:c.158C>T, NP_003759.1:p.Pro32Leu, NP_001284505.1:p.Pro53Leu, NP_001284506.1:p.Pro32Leu, NP_001284507.1:p.Pro32Leu, XP_047289347.1:p.Pro53Leu

Select item 140471657215.

rs1404716572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160213132 (GRCh38)
1:160182922 (GRCh37)
Canonical SPDI:: NC_000001.11:160213131:C:T
Gene:: PEA15 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.160213132C>T, NC_000001.10:g.160182922C>T, NM_003768.5:c.195C>T, NM_003768.4:c.195C>T, NM_003768.3:c.195C>T, NM_001297576.2:c.258C>T, NM_001297576.1:c.258C>T, NM_001297577.2:c.195C>T, NM_001297577.1:c.195C>T, NM_001297578.2:c.129C>T, NM_001297578.1:c.129C>T, NR_123724.2:n.162C>T, NR_123724.1:n.227C>T, XM_047433391.1:c.258C>T

Select item 139107693016.

rs1391076930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160213444 (GRCh38)
1:160183234 (GRCh37)
Canonical SPDI:: NC_000001.11:160213443:G:A
Gene:: PEA15 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160213444G>A, NC_000001.10:g.160183234G>A, NM_003768.5:c.351G>A, NM_003768.4:c.351G>A, NM_003768.3:c.351G>A, NM_001297576.2:c.414G>A, NM_001297576.1:c.414G>A, NM_001297577.2:c.351G>A, NM_001297577.1:c.351G>A, NM_001297578.2:c.285G>A, NM_001297578.1:c.285G>A, NR_123724.2:n.318G>A, NR_123724.1:n.383G>A, XM_047433391.1:c.414G>A

Select item 138976149817.

rs1389761498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160213151 (GRCh38)
1:160182941 (GRCh37)
Canonical SPDI:: NC_000001.11:160213150:C:T
Gene:: PEA15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160213151C>T, NC_000001.10:g.160182941C>T, NM_003768.5:c.214C>T, NM_003768.4:c.214C>T, NM_003768.3:c.214C>T, NM_001297576.2:c.277C>T, NM_001297576.1:c.277C>T, NM_001297577.2:c.214C>T, NM_001297577.1:c.214C>T, NM_001297578.2:c.148C>T, NM_001297578.1:c.148C>T, NR_123724.2:n.181C>T, NR_123724.1:n.246C>T, XM_047433391.1:c.277C>T, NP_003759.1:p.Arg72Cys, NP_001284505.1:p.Arg93Cys, NP_001284506.1:p.Arg72Cys, NP_001284507.1:p.Arg50Cys, XP_047289347.1:p.Arg93Cys

Select item 136218461618.

rs1362184616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160211685 (GRCh38)
1:160181475 (GRCh37)
Canonical SPDI:: NC_000001.11:160211684:C:G
Gene:: PEA15 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.160211685C>G, NC_000001.10:g.160181475C>G, NM_003768.5:c.141C>G, NM_003768.4:c.141C>G, NM_003768.3:c.141C>G, NM_001297576.2:c.204C>G, NM_001297576.1:c.204C>G, NM_001297577.2:c.141C>G, NM_001297577.1:c.141C>G, XM_047433391.1:c.204C>G, NP_003759.1:p.Ser47Arg, NP_001284505.1:p.Ser68Arg, NP_001284506.1:p.Ser47Arg, XP_047289347.1:p.Ser68Arg

Select item 136144493219.

rs1361444932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:160211648 (GRCh38)
1:160181438 (GRCh37)
Canonical SPDI:: NC_000001.11:160211647:A:G
Gene:: PEA15 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160211648A>G, NC_000001.10:g.160181438A>G, NM_003768.5:c.104A>G, NM_003768.4:c.104A>G, NM_003768.3:c.104A>G, NM_001297576.2:c.167A>G, NM_001297576.1:c.167A>G, NM_001297577.2:c.104A>G, NM_001297577.1:c.104A>G, NM_001297578.2:c.104A>G, NM_001297578.1:c.104A>G, XM_047433391.1:c.167A>G, NP_003759.1:p.Lys35Arg, NP_001284505.1:p.Lys56Arg, NP_001284506.1:p.Lys35Arg, NP_001284507.1:p.Lys35Arg, XP_047289347.1:p.Lys56Arg

Select item 133684514520.

rs1336845145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160213175 (GRCh38)
1:160182965 (GRCh37)
Canonical SPDI:: NC_000001.11:160213174:G:A
Gene:: PEA15 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160213175G>A, NC_000001.10:g.160182965G>A, NM_003768.5:c.238G>A, NM_003768.4:c.238G>A, NM_003768.3:c.238G>A, NM_001297576.2:c.301G>A, NM_001297576.1:c.301G>A, NM_001297577.2:c.238G>A, NM_001297577.1:c.238G>A, NM_001297578.2:c.172G>A, NM_001297578.1:c.172G>A, NR_123724.2:n.205G>A, NR_123724.1:n.270G>A, XM_047433391.1:c.301G>A, NP_003759.1:p.Val80Ile, NP_001284505.1:p.Val101Ile, NP_001284506.1:p.Val80Ile, NP_001284507.1:p.Val58Ile, XP_047289347.1:p.Val101Ile

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