Canonical Allele Identifier: CA431820815

Gene: ATG16L1

Linked Data

• gnomAD v4: 2-233274709-G-A
• MyVariant Identifiers: chr2:g.234183355G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274709G>A , CM000664.2:g.233274709G>A	GRCh38
NC_000002.11:g.234183355G>A , CM000664.1:g.234183355G>A	GRCh37
NC_000002.10:g.233848094G>A	NCBI36
NG_023038.1:g.28139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.885G>A MANE Select	ENSP00000375872.4:p.Gln295=
ENST00000347464.9:c.396G>A	ENSP00000318259.6:p.Gln132=
ENST00000373525.9:c.453G>A	ENSP00000362625.5:p.Gln151=
ENST00000392017.8:c.885G>A	ENSP00000375872.4:p.Gln295=
ENST00000392018.1:c.936G>A	ENSP00000375873.1:p.Gln312=
ENST00000392020.8:c.828G>A	ENSP00000375875.4:p.Gln276=
ENST00000392021.7:c.*766G>A	ENSP00000375876.3:n.*766G>A
ENST00000419681.5:c.396G>A	ENSP00000398773.1:p.Gln132=
ENST00000444735.5:c.504G>A	ENSP00000409215.1:p.Gln168=
ENST00000474148.5:n.1680G>A
ENST00000479942.5:n.1031G>A
ENST00000492298.5:n.406G>A
ENST00000498620.5:n.392G>A
NM_001190266.1:c.633G>A	NP_001177195.1:p.Gln211=
NM_001190267.1:c.537G>A	NP_001177196.1:p.Gln179=
NM_017974.3:c.828G>A	NP_060444.3:p.Gln276=
NM_030803.6:c.885G>A	NP_110430.5:p.Gln295=
NM_198890.2:c.396G>A	NP_942593.2:p.Gln132=
XM_005246082.1:c.936G>A	XP_005246139.1:p.Gln312=
XM_005246084.1:c.504G>A	XP_005246141.1:p.Gln168=
XM_005246086.1:c.453G>A	XP_005246143.1:p.Gln151=
XM_006712608.1:c.684G>A	XP_006712671.1:p.Gln228=
XR_241242.1:n.1130G>A
NM_001363742.1:c.936G>A	NP_001350671.1:p.Gln312=
XM_005246084.2:c.504G>A	XP_005246141.1:p.Gln168=
XM_005246086.2:c.453G>A	XP_005246143.1:p.Gln151=
XM_006712608.3:c.684G>A	XP_006712671.1:p.Gln228=
XR_001738801.2:n.1066G>A
XR_241242.3:n.1117G>A
NM_030803.7:c.885G>A MANE Select	NP_110430.5:p.Gln295=
NM_001190266.2:c.633G>A	NP_001177195.1:p.Gln211=
NM_001190267.2:c.537G>A	NP_001177196.1:p.Gln179=
NM_001363742.2:c.936G>A	NP_001350671.1:p.Gln312=
NM_017974.4:c.828G>A	NP_060444.3:p.Gln276=
NM_198890.3:c.396G>A	NP_942593.2:p.Gln132=