SNP Links for Protein (Select 296011078) - SNP

Select item 14892159101.

rs1489215910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:87846014 (GRCh38)
4:88767166 (GRCh37)
Canonical SPDI:: NC_000004.12:87846013:A:T
Gene:: MEPE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.87846014A>T, NC_000004.11:g.88767166A>T, NG_034073.1:g.29617A>T, NM_020203.6:c.1146A>T, NM_020203.5:c.1146A>T, NM_020203.4:c.1146A>T, NM_020203.3:c.1146A>T, NM_001184695.4:c.807A>T, NM_001184695.3:c.807A>T, NM_001184695.2:c.807A>T, NM_001184695.1:c.807A>T, NM_001184694.3:c.1146A>T, NM_001184694.2:c.1146A>T, NM_001184694.1:c.1146A>T, NM_001184697.2:c.807A>T, NM_001184697.1:c.807A>T, NM_001184696.2:c.807A>T, NM_001184696.1:c.807A>T, NM_001291183.2:c.1239A>T, NM_001291183.1:c.1239A>T, NP_064588.1:p.Lys382Asn, NP_001171624.1:p.Lys269Asn, NP_001171623.1:p.Lys382Asn, NP_001171626.1:p.Lys269Asn, NP_001171625.1:p.Lys269Asn, NP_001278112.1:p.Lys413Asn

Select item 14833823512.

rs1483382351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:87845660 (GRCh38)
4:88766812 (GRCh37)
Canonical SPDI:: NC_000004.12:87845659:C:T
Gene:: MEPE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.87845660C>T, NC_000004.11:g.88766812C>T, NG_034073.1:g.29263C>T, NM_020203.6:c.792C>T, NM_020203.5:c.792C>T, NM_020203.4:c.792C>T, NM_020203.3:c.792C>T, NM_001184695.4:c.453C>T, NM_001184695.3:c.453C>T, NM_001184695.2:c.453C>T, NM_001184695.1:c.453C>T, NM_001184694.3:c.792C>T, NM_001184694.2:c.792C>T, NM_001184694.1:c.792C>T, NM_001184697.2:c.453C>T, NM_001184697.1:c.453C>T, NM_001184696.2:c.453C>T, NM_001184696.1:c.453C>T, NM_001291183.2:c.885C>T, NM_001291183.1:c.885C>T

Select item 14784173603.

rs1478417360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87845915 (GRCh38)
4:88767067 (GRCh37)
Canonical SPDI:: NC_000004.12:87845914:G:A
Gene:: MEPE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.87845915G>A, NC_000004.11:g.88767067G>A, NG_034073.1:g.29518G>A, NM_020203.6:c.1047G>A, NM_020203.5:c.1047G>A, NM_020203.4:c.1047G>A, NM_020203.3:c.1047G>A, NM_001184695.4:c.708G>A, NM_001184695.3:c.708G>A, NM_001184695.2:c.708G>A, NM_001184695.1:c.708G>A, NM_001184694.3:c.1047G>A, NM_001184694.2:c.1047G>A, NM_001184694.1:c.1047G>A, NM_001184697.2:c.708G>A, NM_001184697.1:c.708G>A, NM_001184696.2:c.708G>A, NM_001184696.1:c.708G>A, NM_001291183.2:c.1140G>A, NM_001291183.1:c.1140G>A

Select item 14745578364.

rs1474557836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:87846195 (GRCh38)
4:88767347 (GRCh37)
Canonical SPDI:: NC_000004.12:87846194:C:T
Gene:: MEPE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.87846195C>T, NC_000004.11:g.88767347C>T, NG_034073.1:g.29798C>T, NM_020203.6:c.1327C>T, NM_020203.5:c.1327C>T, NM_020203.4:c.1327C>T, NM_020203.3:c.1327C>T, NM_001184695.4:c.988C>T, NM_001184695.3:c.988C>T, NM_001184695.2:c.988C>T, NM_001184695.1:c.988C>T, NM_001184694.3:c.1327C>T, NM_001184694.2:c.1327C>T, NM_001184694.1:c.1327C>T, NM_001184697.2:c.988C>T, NM_001184697.1:c.988C>T, NM_001184696.2:c.988C>T, NM_001184696.1:c.988C>T, NM_001291183.2:c.1420C>T, NM_001291183.1:c.1420C>T, NP_064588.1:p.Leu443Phe, NP_001171624.1:p.Leu330Phe, NP_001171623.1:p.Leu443Phe, NP_001171626.1:p.Leu330Phe, NP_001171625.1:p.Leu330Phe, NP_001278112.1:p.Leu474Phe

Select item 14739221545.

rs1473922154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87845676 (GRCh38)
4:88766828 (GRCh37)
Canonical SPDI:: NC_000004.12:87845675:G:A
Gene:: MEPE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.87845676G>A, NC_000004.11:g.88766828G>A, NG_034073.1:g.29279G>A, NM_020203.6:c.808G>A, NM_020203.5:c.808G>A, NM_020203.4:c.808G>A, NM_020203.3:c.808G>A, NM_001184695.4:c.469G>A, NM_001184695.3:c.469G>A, NM_001184695.2:c.469G>A, NM_001184695.1:c.469G>A, NM_001184694.3:c.808G>A, NM_001184694.2:c.808G>A, NM_001184694.1:c.808G>A, NM_001184697.2:c.469G>A, NM_001184697.1:c.469G>A, NM_001184696.2:c.469G>A, NM_001184696.1:c.469G>A, NM_001291183.2:c.901G>A, NM_001291183.1:c.901G>A, NP_064588.1:p.Glu270Lys, NP_001171624.1:p.Glu157Lys, NP_001171623.1:p.Glu270Lys, NP_001171626.1:p.Glu157Lys, NP_001171625.1:p.Glu157Lys, NP_001278112.1:p.Glu301Lys

Select item 14729080806.

rs1472908080 [Homo sapiens]

Variant type:: DEL
Alleles:: GCAACCTT>- [Show Flanks]
Chromosome:: 4:87846123 (GRCh38)
4:88767275 (GRCh37)
Canonical SPDI:: NC_000004.12:87846122:GCAACCTT:
Gene:: MEPE (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
-=0.0005/1 (Korea1K)
HGVS:: NC_000004.12:g.87846123_87846130del, NC_000004.11:g.88767275_88767282del, NG_034073.1:g.29726_29733del, NM_020203.6:c.1255_1262del, NM_020203.5:c.1255_1262del, NM_020203.4:c.1255_1262del, NM_020203.3:c.1255_1262del, NM_001184695.4:c.916_923del, NM_001184695.3:c.916_923del, NM_001184695.2:c.916_923del, NM_001184695.1:c.916_923del, NM_001184694.3:c.1255_1262del, NM_001184694.2:c.1255_1262del, NM_001184694.1:c.1255_1262del, NM_001184697.2:c.916_923del, NM_001184697.1:c.916_923del, NM_001184696.2:c.916_923del, NM_001184696.1:c.916_923del, NM_001291183.2:c.1348_1355del, NM_001291183.1:c.1348_1355del, NP_064588.1:p.Ala419fs, NP_001171624.1:p.Ala306fs, NP_001171623.1:p.Ala419fs, NP_001171626.1:p.Ala306fs, NP_001171625.1:p.Ala306fs, NP_001278112.1:p.Ala450fs

Select item 14725943807.

rs1472594380 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 4:87846256 (GRCh38)
4:88767408 (GRCh37)
Canonical SPDI:: NC_000004.12:87846251:ATAATAA:ATAA
Gene:: MEPE (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: ATAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.87846253TAA[1], NC_000004.11:g.88767405TAA[1], NG_034073.1:g.29856TAA[1], NM_020203.6:c.1385TAA[1], NM_020203.5:c.1385TAA[1], NM_020203.4:c.1385TAA[1], NM_020203.3:c.1385TAA[1], NM_001184695.4:c.1046TAA[1], NM_001184695.3:c.1046TAA[1], NM_001184695.2:c.1046TAA[1], NM_001184695.1:c.1046TAA[1], NM_001184694.3:c.1385TAA[1], NM_001184694.2:c.1385TAA[1], NM_001184694.1:c.1385TAA[1], NM_001184697.2:c.1046TAA[1], NM_001184697.1:c.1046TAA[1], NM_001184696.2:c.1046TAA[1], NM_001184696.1:c.1046TAA[1], NM_001291183.2:c.1478TAA[1], NM_001291183.1:c.1478TAA[1], NP_064588.1:p.Ile463del, NP_001171624.1:p.Ile350del, NP_001171623.1:p.Ile463del, NP_001171626.1:p.Ile350del, NP_001171625.1:p.Ile350del, NP_001278112.1:p.Ile494del

Select item 14716655288.

rs1471665528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:87845931 (GRCh38)
4:88767083 (GRCh37)
Canonical SPDI:: NC_000004.12:87845930:G:C
Gene:: MEPE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.87845931G>C, NC_000004.11:g.88767083G>C, NG_034073.1:g.29534G>C, NM_020203.6:c.1063G>C, NM_020203.5:c.1063G>C, NM_020203.4:c.1063G>C, NM_020203.3:c.1063G>C, NM_001184695.4:c.724G>C, NM_001184695.3:c.724G>C, NM_001184695.2:c.724G>C, NM_001184695.1:c.724G>C, NM_001184694.3:c.1063G>C, NM_001184694.2:c.1063G>C, NM_001184694.1:c.1063G>C, NM_001184697.2:c.724G>C, NM_001184697.1:c.724G>C, NM_001184696.2:c.724G>C, NM_001184696.1:c.724G>C, NM_001291183.2:c.1156G>C, NM_001291183.1:c.1156G>C, NP_064588.1:p.Gly355Arg, NP_001171624.1:p.Gly242Arg, NP_001171623.1:p.Gly355Arg, NP_001171626.1:p.Gly242Arg, NP_001171625.1:p.Gly242Arg, NP_001278112.1:p.Gly386Arg

Select item 14681229519.

rs1468122951 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 4:87846111 (GRCh38)
4:88767264 (GRCh37)
Canonical SPDI:: NC_000004.12:87846111::TC
Gene:: MEPE (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0.0002/1 (ALFA)
TC=0.0002/1 (Estonian)
TC=0.0005/1 (Korea1K)
HGVS:: NC_000004.12:g.87846111_87846112insTC, NC_000004.11:g.88767263_88767264insTC, NG_034073.1:g.29714_29715insTC, NM_020203.6:c.1243_1244insTC, NM_020203.5:c.1243_1244insTC, NM_020203.4:c.1243_1244insTC, NM_020203.3:c.1243_1244insTC, NM_001184695.4:c.904_905insTC, NM_001184695.3:c.904_905insTC, NM_001184695.2:c.904_905insTC, NM_001184695.1:c.904_905insTC, NM_001184694.3:c.1243_1244insTC, NM_001184694.2:c.1243_1244insTC, NM_001184694.1:c.1243_1244insTC, NM_001184697.2:c.904_905insTC, NM_001184697.1:c.904_905insTC, NM_001184696.2:c.904_905insTC, NM_001184696.1:c.904_905insTC, NM_001291183.2:c.1336_1337insTC, NM_001291183.1:c.1336_1337insTC, NP_064588.1:p.Asn415fs, NP_001171624.1:p.Asn302fs, NP_001171623.1:p.Asn415fs, NP_001171626.1:p.Asn302fs, NP_001171625.1:p.Asn302fs, NP_001278112.1:p.Asn446fs

Select item 146808764310.

rs1468087643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:87846279 (GRCh38)
4:88767431 (GRCh37)
Canonical SPDI:: NC_000004.12:87846278:T:G
Gene:: MEPE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.87846279T>G, NC_000004.11:g.88767431T>G, NG_034073.1:g.29882T>G, NM_020203.6:c.1411T>G, NM_020203.5:c.1411T>G, NM_020203.4:c.1411T>G, NM_020203.3:c.1411T>G, NM_001184695.4:c.1072T>G, NM_001184695.3:c.1072T>G, NM_001184695.2:c.1072T>G, NM_001184695.1:c.1072T>G, NM_001184694.3:c.1411T>G, NM_001184694.2:c.1411T>G, NM_001184694.1:c.1411T>G, NM_001184697.2:c.1072T>G, NM_001184697.1:c.1072T>G, NM_001184696.2:c.1072T>G, NM_001184696.1:c.1072T>G, NM_001291183.2:c.1504T>G, NM_001291183.1:c.1504T>G, NP_064588.1:p.Tyr471Asp, NP_001171624.1:p.Tyr358Asp, NP_001171623.1:p.Tyr471Asp, NP_001171626.1:p.Tyr358Asp, NP_001171625.1:p.Tyr358Asp, NP_001278112.1:p.Tyr502Asp

Select item 146728664211.

rs1467286642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:87846233 (GRCh38)
4:88767385 (GRCh37)
Canonical SPDI:: NC_000004.12:87846232:T:C
Gene:: MEPE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.87846233T>C, NC_000004.11:g.88767385T>C, NG_034073.1:g.29836T>C, NM_020203.6:c.1365T>C, NM_020203.5:c.1365T>C, NM_020203.4:c.1365T>C, NM_020203.3:c.1365T>C, NM_001184695.4:c.1026T>C, NM_001184695.3:c.1026T>C, NM_001184695.2:c.1026T>C, NM_001184695.1:c.1026T>C, NM_001184694.3:c.1365T>C, NM_001184694.2:c.1365T>C, NM_001184694.1:c.1365T>C, NM_001184697.2:c.1026T>C, NM_001184697.1:c.1026T>C, NM_001184696.2:c.1026T>C, NM_001184696.1:c.1026T>C, NM_001291183.2:c.1458T>C, NM_001291183.1:c.1458T>C

Select item 146603333412.

rs1466033334 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 4:87846115 (GRCh38)
4:88767267 (GRCh37)
Canonical SPDI:: NC_000004.12:87846114:GG:
Gene:: MEPE (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
-=0.0005/1 (Korea1K)
HGVS:: NC_000004.12:g.87846115_87846116del, NC_000004.11:g.88767267_88767268del, NG_034073.1:g.29718_29719del, NM_020203.6:c.1247_1248del, NM_020203.5:c.1247_1248del, NM_020203.4:c.1247_1248del, NM_020203.3:c.1247_1248del, NM_001184695.4:c.908_909del, NM_001184695.3:c.908_909del, NM_001184695.2:c.908_909del, NM_001184695.1:c.908_909del, NM_001184694.3:c.1247_1248del, NM_001184694.2:c.1247_1248del, NM_001184694.1:c.1247_1248del, NM_001184697.2:c.908_909del, NM_001184697.1:c.908_909del, NM_001184696.2:c.908_909del, NM_001184696.1:c.908_909del, NM_001291183.2:c.1340_1341del, NM_001291183.1:c.1340_1341del, NP_064588.1:p.Arg416fs, NP_001171624.1:p.Arg303fs, NP_001171623.1:p.Arg416fs, NP_001171626.1:p.Arg303fs, NP_001171625.1:p.Arg303fs, NP_001278112.1:p.Arg447fs

Select item 146499166813.

rs1464991668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87845724 (GRCh38)
4:88766876 (GRCh37)
Canonical SPDI:: NC_000004.12:87845723:G:A
Gene:: MEPE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.87845724G>A, NC_000004.11:g.88766876G>A, NG_034073.1:g.29327G>A, NM_020203.6:c.856G>A, NM_020203.5:c.856G>A, NM_020203.4:c.856G>A, NM_020203.3:c.856G>A, NM_001184695.4:c.517G>A, NM_001184695.3:c.517G>A, NM_001184695.2:c.517G>A, NM_001184695.1:c.517G>A, NM_001184694.3:c.856G>A, NM_001184694.2:c.856G>A, NM_001184694.1:c.856G>A, NM_001184697.2:c.517G>A, NM_001184697.1:c.517G>A, NM_001184696.2:c.517G>A, NM_001184696.1:c.517G>A, NM_001291183.2:c.949G>A, NM_001291183.1:c.949G>A, NP_064588.1:p.Ala286Thr, NP_001171624.1:p.Ala173Thr, NP_001171623.1:p.Ala286Thr, NP_001171626.1:p.Ala173Thr, NP_001171625.1:p.Ala173Thr, NP_001278112.1:p.Ala317Thr

Select item 146421843714.

rs1464218437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:87846294 (GRCh38)
4:88767446 (GRCh37)
Canonical SPDI:: NC_000004.12:87846293:C:A
Gene:: MEPE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.87846294C>A, NC_000004.11:g.88767446C>A, NG_034073.1:g.29897C>A, NM_020203.6:c.1426C>A, NM_020203.5:c.1426C>A, NM_020203.4:c.1426C>A, NM_020203.3:c.1426C>A, NM_001184695.4:c.1087C>A, NM_001184695.3:c.1087C>A, NM_001184695.2:c.1087C>A, NM_001184695.1:c.1087C>A, NM_001184694.3:c.1426C>A, NM_001184694.2:c.1426C>A, NM_001184694.1:c.1426C>A, NM_001184697.2:c.1087C>A, NM_001184697.1:c.1087C>A, NM_001184696.2:c.1087C>A, NM_001184696.1:c.1087C>A, NM_001291183.2:c.1519C>A, NM_001291183.1:c.1519C>A, NP_064588.1:p.Gln476Lys, NP_001171624.1:p.Gln363Lys, NP_001171623.1:p.Gln476Lys, NP_001171626.1:p.Gln363Lys, NP_001171625.1:p.Gln363Lys, NP_001278112.1:p.Gln507Lys

Select item 146377493315.

rs1463774933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87845366 (GRCh38)
4:88766518 (GRCh37)
Canonical SPDI:: NC_000004.12:87845365:A:G
Gene:: MEPE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.87845366A>G, NC_000004.11:g.88766518A>G, NG_034073.1:g.28969A>G, NM_020203.6:c.498A>G, NM_020203.5:c.498A>G, NM_020203.4:c.498A>G, NM_020203.3:c.498A>G, NM_001184695.4:c.159A>G, NM_001184695.3:c.159A>G, NM_001184695.2:c.159A>G, NM_001184695.1:c.159A>G, NM_001184694.3:c.498A>G, NM_001184694.2:c.498A>G, NM_001184694.1:c.498A>G, NM_001184697.2:c.159A>G, NM_001184697.1:c.159A>G, NM_001184696.2:c.159A>G, NM_001184696.1:c.159A>G, NM_001291183.2:c.591A>G, NM_001291183.1:c.591A>G

Select item 145945481316.

rs1459454813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87845950 (GRCh38)
4:88767102 (GRCh37)
Canonical SPDI:: NC_000004.12:87845949:G:A
Gene:: MEPE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.87845950G>A, NC_000004.11:g.88767102G>A, NG_034073.1:g.29553G>A, NM_020203.6:c.1082G>A, NM_020203.5:c.1082G>A, NM_020203.4:c.1082G>A, NM_020203.3:c.1082G>A, NM_001184695.4:c.743G>A, NM_001184695.3:c.743G>A, NM_001184695.2:c.743G>A, NM_001184695.1:c.743G>A, NM_001184694.3:c.1082G>A, NM_001184694.2:c.1082G>A, NM_001184694.1:c.1082G>A, NM_001184697.2:c.743G>A, NM_001184697.1:c.743G>A, NM_001184696.2:c.743G>A, NM_001184696.1:c.743G>A, NM_001291183.2:c.1175G>A, NM_001291183.1:c.1175G>A, NP_064588.1:p.Gly361Asp, NP_001171624.1:p.Gly248Asp, NP_001171623.1:p.Gly361Asp, NP_001171626.1:p.Gly248Asp, NP_001171625.1:p.Gly248Asp, NP_001278112.1:p.Gly392Asp

Select item 145700040917.

rs1457000409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:87846366 (GRCh38)
4:88767518 (GRCh37)
Canonical SPDI:: NC_000004.12:87846365:A:G
Gene:: MEPE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.87846366A>G, NC_000004.11:g.88767518A>G, NG_034073.1:g.29969A>G, NM_020203.6:c.1498A>G, NM_020203.5:c.1498A>G, NM_020203.4:c.1498A>G, NM_020203.3:c.1498A>G, NM_001184695.4:c.1159A>G, NM_001184695.3:c.1159A>G, NM_001184695.2:c.1159A>G, NM_001184695.1:c.1159A>G, NM_001184694.3:c.1498A>G, NM_001184694.2:c.1498A>G, NM_001184694.1:c.1498A>G, NM_001184697.2:c.1159A>G, NM_001184697.1:c.1159A>G, NM_001184696.2:c.1159A>G, NM_001184696.1:c.1159A>G, NM_001291183.2:c.1591A>G, NM_001291183.1:c.1591A>G, NP_064588.1:p.Arg500Gly, NP_001171624.1:p.Arg387Gly, NP_001171623.1:p.Arg500Gly, NP_001171626.1:p.Arg387Gly, NP_001171625.1:p.Arg387Gly, NP_001278112.1:p.Arg531Gly

Select item 145227164418.

rs1452271644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:87846124 (GRCh38)
4:88767276 (GRCh37)
Canonical SPDI:: NC_000004.12:87846123:C:A,NC_000004.12:87846123:C:T
Gene:: MEPE (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_000004.12:g.87846124C>A, NC_000004.12:g.87846124C>T, NC_000004.11:g.88767276C>A, NC_000004.11:g.88767276C>T, NG_034073.1:g.29727C>A, NG_034073.1:g.29727C>T, NM_020203.6:c.1256C>A, NM_020203.6:c.1256C>T, NM_020203.5:c.1256C>A, NM_020203.5:c.1256C>T, NM_020203.4:c.1256C>A, NM_020203.4:c.1256C>T, NM_020203.3:c.1256C>A, NM_020203.3:c.1256C>T, NM_001184695.4:c.917C>A, NM_001184695.4:c.917C>T, NM_001184695.3:c.917C>A, NM_001184695.3:c.917C>T, NM_001184695.2:c.917C>A, NM_001184695.2:c.917C>T, NM_001184695.1:c.917C>A, NM_001184695.1:c.917C>T, NM_001184694.3:c.1256C>A, NM_001184694.3:c.1256C>T, NM_001184694.2:c.1256C>A, NM_001184694.2:c.1256C>T, NM_001184694.1:c.1256C>A, NM_001184694.1:c.1256C>T, NM_001184697.2:c.917C>A, NM_001184697.2:c.917C>T, NM_001184697.1:c.917C>A, NM_001184697.1:c.917C>T, NM_001184696.2:c.917C>A, NM_001184696.2:c.917C>T, NM_001184696.1:c.917C>A, NM_001184696.1:c.917C>T, NM_001291183.2:c.1349C>A, NM_001291183.2:c.1349C>T, NM_001291183.1:c.1349C>A, NM_001291183.1:c.1349C>T, NP_064588.1:p.Ala419Glu, NP_064588.1:p.Ala419Val, NP_001171624.1:p.Ala306Glu, NP_001171624.1:p.Ala306Val, NP_001171623.1:p.Ala419Glu, NP_001171623.1:p.Ala419Val, NP_001171626.1:p.Ala306Glu, NP_001171626.1:p.Ala306Val, NP_001171625.1:p.Ala306Glu, NP_001171625.1:p.Ala306Val, NP_001278112.1:p.Ala450Glu, NP_001278112.1:p.Ala450Val

Select item 145153187519.

rs1451531875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:87845638 (GRCh38)
4:88766790 (GRCh37)
Canonical SPDI:: NC_000004.12:87845637:G:A
Gene:: MEPE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.87845638G>A, NC_000004.11:g.88766790G>A, NG_034073.1:g.29241G>A, NM_020203.6:c.770G>A, NM_020203.5:c.770G>A, NM_020203.4:c.770G>A, NM_020203.3:c.770G>A, NM_001184695.4:c.431G>A, NM_001184695.3:c.431G>A, NM_001184695.2:c.431G>A, NM_001184695.1:c.431G>A, NM_001184694.3:c.770G>A, NM_001184694.2:c.770G>A, NM_001184694.1:c.770G>A, NM_001184697.2:c.431G>A, NM_001184697.1:c.431G>A, NM_001184696.2:c.431G>A, NM_001184696.1:c.431G>A, NM_001291183.2:c.863G>A, NM_001291183.1:c.863G>A, NP_064588.1:p.Gly257Glu, NP_001171624.1:p.Gly144Glu, NP_001171623.1:p.Gly257Glu, NP_001171626.1:p.Gly144Glu, NP_001171625.1:p.Gly144Glu, NP_001278112.1:p.Gly288Glu

Select item 145105986520.

rs1451059865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:87845299 (GRCh38)
4:88766451 (GRCh37)
Canonical SPDI:: NC_000004.12:87845298:C:A
Gene:: MEPE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000038/10 (TOPMED)
HGVS:: NC_000004.12:g.87845299C>A, NC_000004.11:g.88766451C>A, NG_034073.1:g.28902C>A, NM_020203.6:c.431C>A, NM_020203.5:c.431C>A, NM_020203.4:c.431C>A, NM_020203.3:c.431C>A, NM_001184695.4:c.92C>A, NM_001184695.3:c.92C>A, NM_001184695.2:c.92C>A, NM_001184695.1:c.92C>A, NM_001184694.3:c.431C>A, NM_001184694.2:c.431C>A, NM_001184694.1:c.431C>A, NM_001184697.2:c.92C>A, NM_001184697.1:c.92C>A, NM_001184696.2:c.92C>A, NM_001184696.1:c.92C>A, NM_001291183.2:c.524C>A, NM_001291183.1:c.524C>A, NP_064588.1:p.Ala144Glu, NP_001171624.1:p.Ala31Glu, NP_001171623.1:p.Ala144Glu, NP_001171626.1:p.Ala31Glu, NP_001171625.1:p.Ala31Glu, NP_001278112.1:p.Ala175Glu

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Result Filters

Clinical Significance

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Items: 1 to 20 of 413

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