Canonical Allele Identifier: CA343384418

Gene: ATF6

Linked Data

• dbSNP Id: rs748580731
• gnomAD v2: 1-161751735-G-A
• gnomAD v4: 1-161781945-G-A
• MyVariant Identifiers: chr1:g.161751735G>A (hg19) ; chr1:g.161781945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161781945G>A , CM000663.2:g.161781945G>A	GRCh38
NC_000001.10:g.161751735G>A , CM000663.1:g.161751735G>A	GRCh37
NC_000001.9:g.160018359G>A	NCBI36
NG_029773.1:g.20702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367942.4:c.193G>A MANE Select	ENSP00000356919.3:p.Asp65Asn
ENST00000679833.1:c.193G>A	ENSP00000505321.1:p.Asp65Asn
ENST00000679853.1:c.193G>A	ENSP00000506149.1:p.Asp65Asn
ENST00000679886.1:c.82+15503G>A	ENSP00000506559.1:n.82+15503G>A
ENST00000680180.1:n.233G>A
ENST00000680462.1:c.193G>A	ENSP00000505583.1:p.Asp65Asn
ENST00000680481.1:c.193G>A	ENSP00000505919.1:p.Asp65Asn
ENST00000680633.1:c.-6G>A	ENSP00000505371.1:n.-6G>A
ENST00000680688.1:c.193G>A	ENSP00000504865.1:p.Asp65Asn
ENST00000681001.1:c.*45G>A	ENSP00000506145.1:n.*45G>A
ENST00000681036.1:c.-6G>A	ENSP00000505474.1:n.-6G>A
ENST00000681169.1:c.193G>A	ENSP00000505455.1:p.Asp65Asn
ENST00000681187.1:n.233G>A
ENST00000681492.1:c.193G>A	ENSP00000506139.1:p.Asp65Asn
ENST00000681541.1:c.-6G>A	ENSP00000506087.1:n.-6G>A
ENST00000681557.1:c.189G>A	ENSP00000506229.1:p.Trp63Ter
ENST00000681738.1:c.193G>A	ENSP00000505025.1:p.Asp65Asn
ENST00000681779.1:n.243G>A
ENST00000681801.1:c.193G>A	ENSP00000505998.1:p.Asp65Asn
ENST00000681912.1:c.-30-9463G>A	ENSP00000505875.1:n.-30-9463G>A
ENST00000367942.3:c.193G>A	ENSP00000356919.3:p.Asp65Asn
NM_007348.3:c.193G>A	NP_031374.2:p.Asp65Asn
XM_006711224.1:c.193G>A	XP_006711287.1:p.Asp65Asn
XM_011509308.1:c.193G>A	XP_011507610.1:p.Asp65Asn
XM_011509309.1:c.193G>A	XP_011507611.1:p.Asp65Asn
XM_011509310.1:c.193G>A	XP_011507612.1:p.Asp65Asn
XM_011509310.2:c.193G>A	XP_011507612.1:p.Asp65Asn
NM_007348.4:c.193G>A MANE Select	NP_031374.2:p.Asp65Asn