Canonical Allele Identifier: CA122748
Gene: SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158672135T>G
GRCh37 chr1:g.158641925T>G
Revel Score:
ENST00000368148 0.522
ENST00000368147 0.522
gnomAD v2:
1:158641925 T / G
gnomAD v3:
1:158672135 T / G
gnomAD v4:
chr1-158672135-T-G
Joint Max Group AF 0.00001063 (AFR)
Exomes Max Group AF 0.0000099 (AFR)
ClinVar RCV:
RCV000013698
RCV003137514
ClinVar Variation:
12845
dbSNP:
121918635
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158672135T>G , CM000663.2:g.158672135T>G GRCh38
NC_000001.10:g.158641925T>G , CM000663.1:g.158641925T>G GRCh37
NC_000001.9:g.156908549T>G NCBI36
NG_011474.1:g.19582A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.1412A>C MANE Select ENSP00000495214.1:p.Gln471Pro
ENST00000368147.8:c.1412A>C ENSP00000357129.4:p.Gln471Pro
ENST00000614909.4:c.1412A>C ENSP00000482595.1:p.Gln471Pro
NM_003126.2:c.1412A>C NP_003117.2:p.Gln471Pro
XM_011509916.1:c.1412A>C XP_011508218.1:p.Gln471Pro
XM_011509917.1:c.1412A>C XP_011508219.1:p.Gln471Pro
XM_011509918.1:c.1412A>C XP_011508220.1:p.Gln471Pro
XM_011509919.1:c.1412A>C XP_011508221.1:p.Gln471Pro
XR_921911.1:n.1525A>C
XR_921912.1:n.1530A>C
NM_003126.3:c.1412A>C NP_003117.2:p.Gln471Pro
XM_011509916.2:c.1412A>C XP_011508218.1:p.Gln471Pro
XM_011509917.3:c.1412A>C XP_011508219.1:p.Gln471Pro
XM_011509918.3:c.1412A>C XP_011508220.1:p.Gln471Pro
XM_011509919.3:c.1412A>C XP_011508221.1:p.Gln471Pro
XR_921911.3:n.1538A>C
XR_921912.2:n.1540A>C
NM_003126.4:c.1412A>C MANE Select NP_003117.2:p.Gln471Pro
Search 100 bp 5'
Search 100 bp 3'