Canonical Allele Identifier: CA343380612
Community Standard Title: NM_007348.4(ATF6):c.1356G>C (p.Met452Ile)
Gene: ATF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161851758G>C , CM000663.2:g.161851758G>C GRCh38
NC_000001.10:g.161821548G>C , CM000663.1:g.161821548G>C GRCh37
NC_000001.9:g.160088172G>C NCBI36
NG_029773.1:g.90515G>C

Transcript Alleles

HGVS Amino-acid Change
NM_007348.4:c.1356G>C MANE Select NP_031374.2:p.Met452Ile
ENST00000367942.4:c.1356G>C MANE Select ENSP00000356919.3:p.Met452Ile
NM_007348.3:c.1356G>C NP_031374.2:p.Met452Ile
ENST00000367942.3:c.1356G>C ENSP00000356919.3:p.Met452Ile
ENST00000476437.1:n.563G>C
ENST00000679833.1:c.1356G>C ENSP00000505321.1:p.Met452Ile
ENST00000679853.1:c.1356G>C ENSP00000506149.1:p.Met452Ile
ENST00000679886.1:c.750G>C ENSP00000506559.1:p.Met250Ile
ENST00000680180.1:n.1396G>C
ENST00000680462.1:c.1356G>C ENSP00000505583.1:p.Met452Ile
ENST00000680481.1:c.*979G>C ENSP00000505919.1:n.*979G>C
ENST00000680688.1:c.1413G>C ENSP00000504865.1:p.Met471Ile
ENST00000681001.1:c.*1208G>C ENSP00000506145.1:n.*1208G>C
ENST00000681036.1:c.1158G>C ENSP00000505474.1:p.Met386Ile
ENST00000681169.1:c.*274G>C ENSP00000505455.1:n.*274G>C
ENST00000681187.1:n.1396G>C
ENST00000681492.1:c.1356G>C ENSP00000506139.1:p.Met452Ile
ENST00000681541.1:c.1158G>C ENSP00000506087.1:p.Met386Ile
ENST00000681557.1:c.*1157G>C ENSP00000506229.1:n.*1157G>C
ENST00000681738.1:c.1356G>C ENSP00000505025.1:p.Met452Ile
ENST00000681779.1:n.1406G>C
ENST00000681801.1:c.1356G>C ENSP00000505998.1:p.Met452Ile
ENST00000681912.1:c.972G>C ENSP00000505875.1:p.Met324Ile
XM_006711224.1:c.1356G>C XP_006711287.1:p.Met452Ile
XM_011509308.1:c.1413G>C XP_011507610.1:p.Met471Ile
XM_011509309.1:c.1413G>C XP_011507611.1:p.Met471Ile
XM_011509310.1:c.1413G>C XP_011507612.1:p.Met471Ile
XM_011509310.2:c.1413G>C XP_011507612.1:p.Met471Ile