Canonical Allele Identifier: CA1214492
Gene: ATF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 960159
ClinVar RCV Id: RCV001233630
dbSNP Id: rs748192891

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161853312C>T , CM000663.2:g.161853312C>T GRCh38
NC_000001.10:g.161823102C>T , CM000663.1:g.161823102C>T GRCh37
NC_000001.9:g.160089726C>T NCBI36
NG_029773.1:g.92069C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367942.4:c.1522C>T MANE Select ENSP00000356919.3:p.Arg508Cys
ENST00000679833.1:c.1522C>T ENSP00000505321.1:p.Arg508Cys
ENST00000679853.1:c.1522C>T ENSP00000506149.1:p.Arg508Cys
ENST00000679886.1:c.916C>T ENSP00000506559.1:p.Arg306Cys
ENST00000680180.1:n.1562C>T
ENST00000680462.1:c.1522C>T ENSP00000505583.1:p.Arg508Cys
ENST00000680481.1:c.*1145C>T ENSP00000505919.1:n.*1145C>T
ENST00000680688.1:c.1579C>T ENSP00000504865.1:p.Arg527Cys
ENST00000681001.1:c.*1374C>T ENSP00000506145.1:n.*1374C>T
ENST00000681036.1:c.1324C>T ENSP00000505474.1:p.Arg442Cys
ENST00000681169.1:c.*440C>T ENSP00000505455.1:n.*440C>T
ENST00000681187.1:n.1562C>T
ENST00000681492.1:c.1522C>T ENSP00000506139.1:p.Arg508Cys
ENST00000681541.1:c.1324C>T ENSP00000506087.1:p.Arg442Cys
ENST00000681557.1:c.*1323C>T ENSP00000506229.1:n.*1323C>T
ENST00000681738.1:c.1522C>T ENSP00000505025.1:p.Arg508Cys
ENST00000681779.1:n.1572C>T
ENST00000681801.1:c.1522C>T ENSP00000505998.1:p.Arg508Cys
ENST00000681912.1:c.1138C>T ENSP00000505875.1:p.Arg380Cys
ENST00000367942.3:c.1522C>T ENSP00000356919.3:p.Arg508Cys
ENST00000476437.1:n.729C>T
NM_007348.3:c.1522C>T NP_031374.2:p.Arg508Cys
XM_006711224.1:c.1522C>T XP_006711287.1:p.Arg508Cys
XM_011509308.1:c.1579C>T XP_011507610.1:p.Arg527Cys
XM_011509309.1:c.1579C>T XP_011507611.1:p.Arg527Cys
XM_011509310.1:c.1579C>T XP_011507612.1:p.Arg527Cys
XM_011509310.2:c.1579C>T XP_011507612.1:p.Arg527Cys
NM_007348.4:c.1522C>T MANE Select NP_031374.2:p.Arg508Cys