Canonical Allele Identifier: CA421434100
Gene: ATF6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.161823029T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161853239T>G , CM000663.2:g.161853239T>G GRCh38
NC_000001.10:g.161823029T>G , CM000663.1:g.161823029T>G GRCh37
NC_000001.9:g.160089653T>G NCBI36
NG_029773.1:g.91996T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367942.4:c.1449T>G MANE Select ENSP00000356919.3:p.Leu483=
ENST00000679833.1:c.1449T>G ENSP00000505321.1:p.Leu483=
ENST00000679853.1:c.1449T>G ENSP00000506149.1:p.Leu483=
ENST00000679886.1:c.843T>G ENSP00000506559.1:p.Leu281=
ENST00000680180.1:n.1489T>G
ENST00000680462.1:c.1449T>G ENSP00000505583.1:p.Leu483=
ENST00000680481.1:c.*1072T>G ENSP00000505919.1:n.*1072T>G
ENST00000680688.1:c.1506T>G ENSP00000504865.1:p.Leu502=
ENST00000681001.1:c.*1301T>G ENSP00000506145.1:n.*1301T>G
ENST00000681036.1:c.1251T>G ENSP00000505474.1:p.Leu417=
ENST00000681169.1:c.*367T>G ENSP00000505455.1:n.*367T>G
ENST00000681187.1:n.1489T>G
ENST00000681492.1:c.1449T>G ENSP00000506139.1:p.Leu483=
ENST00000681541.1:c.1251T>G ENSP00000506087.1:p.Leu417=
ENST00000681557.1:c.*1250T>G ENSP00000506229.1:n.*1250T>G
ENST00000681738.1:c.1449T>G ENSP00000505025.1:p.Leu483=
ENST00000681779.1:n.1499T>G
ENST00000681801.1:c.1449T>G ENSP00000505998.1:p.Leu483=
ENST00000681912.1:c.1065T>G ENSP00000505875.1:p.Leu355=
ENST00000367942.3:c.1449T>G ENSP00000356919.3:p.Leu483=
ENST00000476437.1:n.656T>G
NM_007348.3:c.1449T>G NP_031374.2:p.Leu483=
XM_006711224.1:c.1449T>G XP_006711287.1:p.Leu483=
XM_011509308.1:c.1506T>G XP_011507610.1:p.Leu502=
XM_011509309.1:c.1506T>G XP_011507611.1:p.Leu502=
XM_011509310.1:c.1506T>G XP_011507612.1:p.Leu502=
XM_011509310.2:c.1506T>G XP_011507612.1:p.Leu502=
NM_007348.4:c.1449T>G MANE Select NP_031374.2:p.Leu483=