Canonical Allele Identifier: CA122751
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158678432A>G
GRCh37 chr1:g.158648222A>G
Revel Score:
ENST00000368148 0.277
ENST00000368147 0.277
gnomAD v2:
1:158648222 A / G
gnomAD v3:
1:158678432 A / G
gnomAD v4:
chr1-158678432-A-G
Joint Max Group AF 0.00004368 (AFR)
Genomes Max Group AF 0.00004726 (AFR)
Exomes Max Group AF 0.00000991 (AFR)
ClinVar RCV:
RCV000013701
RCV002284170
ClinVar Variation:
12848
dbSNP:
121918636
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158678432A>G , CM000663.2:g.158678432A>G GRCh38
NC_000001.10:g.158648222A>G , CM000663.1:g.158648222A>G GRCh37
NC_000001.9:g.156914846A>G NCBI36
NG_011474.1:g.13285T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.781T>C MANE Select ENSP00000495214.1:p.Ser261Pro
ENST00000368147.8:c.781T>C ENSP00000357129.4:p.Ser261Pro
ENST00000467387.1:c.235T>C ENSP00000476485.1:p.Ser79Pro
ENST00000614909.4:c.781T>C ENSP00000482595.1:p.Ser261Pro
NM_003126.2:c.781T>C NP_003117.2:p.Ser261Pro
XM_011509916.1:c.781T>C XP_011508218.1:p.Ser261Pro
XM_011509917.1:c.781T>C XP_011508219.1:p.Ser261Pro
XM_011509918.1:c.781T>C XP_011508220.1:p.Ser261Pro
XM_011509919.1:c.781T>C XP_011508221.1:p.Ser261Pro
XR_921911.1:n.894T>C
XR_921912.1:n.899T>C
NM_003126.3:c.781T>C NP_003117.2:p.Ser261Pro
XM_011509916.2:c.781T>C XP_011508218.1:p.Ser261Pro
XM_011509917.3:c.781T>C XP_011508219.1:p.Ser261Pro
XM_011509918.3:c.781T>C XP_011508220.1:p.Ser261Pro
XM_011509919.3:c.781T>C XP_011508221.1:p.Ser261Pro
XR_921911.3:n.907T>C
XR_921912.2:n.909T>C
NM_003126.4:c.781T>C MANE Select NP_003117.2:p.Ser261Pro
Search 100 bp 5'
Search 100 bp 3'