Canonical Allele Identifier: CA351046392

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183383G>A (hg19) ; chr2:g.233274737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274737G>A , CM000664.2:g.233274737G>A	GRCh38
NC_000002.11:g.234183383G>A , CM000664.1:g.234183383G>A	GRCh37
NC_000002.10:g.233848122G>A	NCBI36
NG_023038.1:g.28167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.913G>A MANE Select	ENSP00000375872.4:p.Gly305Ser
ENST00000347464.9:c.424G>A	ENSP00000318259.6:p.Gly142Ser
ENST00000373525.9:c.481G>A	ENSP00000362625.5:p.Gly161Ser
ENST00000392017.8:c.913G>A	ENSP00000375872.4:p.Gly305Ser
ENST00000392018.1:c.964G>A	ENSP00000375873.1:p.Gly322Ser
ENST00000392020.8:c.856G>A	ENSP00000375875.4:p.Gly286Ser
ENST00000392021.7:c.*794G>A	ENSP00000375876.3:n.*794G>A
ENST00000419681.5:c.424G>A	ENSP00000398773.1:p.Gly142Ser
ENST00000444735.5:c.532G>A
ENST00000474148.5:n.1708G>A
ENST00000479942.5:n.1059G>A
ENST00000492298.5:n.434G>A
ENST00000498620.5:n.420G>A
NM_001190266.1:c.661G>A	NP_001177195.1:p.Gly221Ser
NM_001190267.1:c.565G>A	NP_001177196.1:p.Gly189Ser
NM_017974.3:c.856G>A	NP_060444.3:p.Gly286Ser
NM_030803.6:c.913G>A	NP_110430.5:p.Gly305Ser
NM_198890.2:c.424G>A	NP_942593.2:p.Gly142Ser
XM_005246082.1:c.964G>A	XP_005246139.1:p.Gly322Ser
XM_005246084.1:c.532G>A	XP_005246141.1:p.Gly178Ser
XM_005246086.1:c.481G>A	XP_005246143.1:p.Gly161Ser
XM_006712608.1:c.712G>A	XP_006712671.1:p.Gly238Ser
XR_241242.1:n.1158G>A
NM_001363742.1:c.964G>A	NP_001350671.1:p.Gly322Ser
XM_005246084.2:c.532G>A	XP_005246141.1:p.Gly178Ser
XM_005246086.2:c.481G>A	XP_005246143.1:p.Gly161Ser
XM_006712608.3:c.712G>A	XP_006712671.1:p.Gly238Ser
XR_001738801.2:n.1094G>A
XR_241242.3:n.1145G>A
NM_030803.7:c.913G>A MANE Select	NP_110430.5:p.Gly305Ser
NM_001190266.2:c.661G>A	NP_001177195.1:p.Gly221Ser
NM_001190267.2:c.565G>A	NP_001177196.1:p.Gly189Ser
NM_001363742.2:c.964G>A	NP_001350671.1:p.Gly322Ser
NM_017974.4:c.856G>A	NP_060444.3:p.Gly286Ser
NM_198890.3:c.424G>A	NP_942593.2:p.Gly142Ser