Canonical Allele Identifier: CA351046400

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183384G>C (hg19) ; chr2:g.233274738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274738G>C , CM000664.2:g.233274738G>C	GRCh38
NC_000002.11:g.234183384G>C , CM000664.1:g.234183384G>C	GRCh37
NC_000002.10:g.233848123G>C	NCBI36
NG_023038.1:g.28168G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.914G>C MANE Select	ENSP00000375872.4:p.Gly305Ala
ENST00000347464.9:c.425G>C	ENSP00000318259.6:p.Gly142Ala
ENST00000373525.9:c.482G>C	ENSP00000362625.5:p.Gly161Ala
ENST00000392017.8:c.914G>C	ENSP00000375872.4:p.Gly305Ala
ENST00000392018.1:c.965G>C	ENSP00000375873.1:p.Gly322Ala
ENST00000392020.8:c.857G>C	ENSP00000375875.4:p.Gly286Ala
ENST00000392021.7:c.*795G>C	ENSP00000375876.3:n.*795G>C
ENST00000419681.5:c.425G>C	ENSP00000398773.1:p.Gly142Ala
ENST00000444735.5:c.533G>C
ENST00000474148.5:n.1709G>C
ENST00000479942.5:n.1060G>C
ENST00000492298.5:n.435G>C
ENST00000498620.5:n.421G>C
NM_001190266.1:c.662G>C	NP_001177195.1:p.Gly221Ala
NM_001190267.1:c.566G>C	NP_001177196.1:p.Gly189Ala
NM_017974.3:c.857G>C	NP_060444.3:p.Gly286Ala
NM_030803.6:c.914G>C	NP_110430.5:p.Gly305Ala
NM_198890.2:c.425G>C	NP_942593.2:p.Gly142Ala
XM_005246082.1:c.965G>C	XP_005246139.1:p.Gly322Ala
XM_005246084.1:c.533G>C	XP_005246141.1:p.Gly178Ala
XM_005246086.1:c.482G>C	XP_005246143.1:p.Gly161Ala
XM_006712608.1:c.713G>C	XP_006712671.1:p.Gly238Ala
XR_241242.1:n.1159G>C
NM_001363742.1:c.965G>C	NP_001350671.1:p.Gly322Ala
XM_005246084.2:c.533G>C	XP_005246141.1:p.Gly178Ala
XM_005246086.2:c.482G>C	XP_005246143.1:p.Gly161Ala
XM_006712608.3:c.713G>C	XP_006712671.1:p.Gly238Ala
XR_001738801.2:n.1095G>C
XR_241242.3:n.1146G>C
NM_030803.7:c.914G>C MANE Select	NP_110430.5:p.Gly305Ala
NM_001190266.2:c.662G>C	NP_001177195.1:p.Gly221Ala
NM_001190267.2:c.566G>C	NP_001177196.1:p.Gly189Ala
NM_001363742.2:c.965G>C	NP_001350671.1:p.Gly322Ala
NM_017974.4:c.857G>C	NP_060444.3:p.Gly286Ala
NM_198890.3:c.425G>C	NP_942593.2:p.Gly142Ala