Canonical Allele Identifier: CA343381269

Gene: ATF6

Linked Data

• gnomAD v4: 1-161853318-C-A
• MyVariant Identifiers: chr1:g.161823108C>A (hg19) ; chr1:g.161853318C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161853318C>A , CM000663.2:g.161853318C>A	GRCh38
NC_000001.10:g.161823108C>A , CM000663.1:g.161823108C>A	GRCh37
NC_000001.9:g.160089732C>A	NCBI36
NG_029773.1:g.92075C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367942.4:c.1528C>A MANE Select	ENSP00000356919.3:p.Leu510Ile
ENST00000679833.1:c.1528C>A	ENSP00000505321.1:p.Leu510Ile
ENST00000679853.1:c.1528C>A	ENSP00000506149.1:p.Leu510Ile
ENST00000679886.1:c.922C>A	ENSP00000506559.1:p.Leu308Ile
ENST00000680180.1:n.1568C>A
ENST00000680462.1:c.1528C>A	ENSP00000505583.1:p.Leu510Ile
ENST00000680481.1:c.*1151C>A	ENSP00000505919.1:n.*1151C>A
ENST00000680688.1:c.1585C>A	ENSP00000504865.1:p.Leu529Ile
ENST00000681001.1:c.*1380C>A	ENSP00000506145.1:n.*1380C>A
ENST00000681036.1:c.1330C>A	ENSP00000505474.1:p.Leu444Ile
ENST00000681169.1:c.*446C>A	ENSP00000505455.1:n.*446C>A
ENST00000681187.1:n.1568C>A
ENST00000681492.1:c.1528C>A	ENSP00000506139.1:p.Leu510Ile
ENST00000681541.1:c.1330C>A	ENSP00000506087.1:p.Leu444Ile
ENST00000681557.1:c.*1329C>A	ENSP00000506229.1:n.*1329C>A
ENST00000681738.1:c.1528C>A	ENSP00000505025.1:p.Leu510Ile
ENST00000681779.1:n.1578C>A
ENST00000681801.1:c.1528C>A	ENSP00000505998.1:p.Leu510Ile
ENST00000681912.1:c.1144C>A	ENSP00000505875.1:p.Leu382Ile
ENST00000367942.3:c.1528C>A	ENSP00000356919.3:p.Leu510Ile
ENST00000476437.1:n.735C>A
NM_007348.3:c.1528C>A	NP_031374.2:p.Leu510Ile
XM_006711224.1:c.1528C>A	XP_006711287.1:p.Leu510Ile
XM_011509308.1:c.1585C>A	XP_011507610.1:p.Leu529Ile
XM_011509309.1:c.1585C>A	XP_011507611.1:p.Leu529Ile
XM_011509310.1:c.1585C>A	XP_011507612.1:p.Leu529Ile
XM_011509310.2:c.1585C>A	XP_011507612.1:p.Leu529Ile
NM_007348.4:c.1528C>A MANE Select	NP_031374.2:p.Leu510Ile