Canonical Allele Identifier: CA1335666665

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274704C= , CM000664.2:g.233274704C=	GRCh38
NC_000002.11:g.234183350C= , CM000664.1:g.234183350C=	GRCh37
NC_000002.10:g.233848089C=	NCBI36
NG_023038.1:g.28134C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.880C= MANE Select	ENSP00000375872.4:p.Pro294=
ENST00000347464.9:c.391C=	ENSP00000318259.6:p.Pro131=
ENST00000373525.9:c.448C=	ENSP00000362625.5:p.Pro150=
ENST00000392017.8:c.880C=	ENSP00000375872.4:p.Pro294=
ENST00000392018.1:c.931C=	ENSP00000375873.1:p.Pro311=
ENST00000392020.8:c.823C=	ENSP00000375875.4:p.Pro275=
ENST00000392021.7:c.*761C=	ENSP00000375876.3:n.*761C=
ENST00000419681.5:c.391C=	ENSP00000398773.1:p.Pro131=
ENST00000444735.5:c.499C=	ENSP00000409215.1:p.Pro167=
ENST00000474148.5:n.1675C=
ENST00000479942.5:n.1026C=
ENST00000492298.5:n.401C=
ENST00000498620.5:n.387C=
NM_001190266.1:c.628C=	NP_001177195.1:p.Pro210=
NM_001190267.1:c.532C=	NP_001177196.1:p.Pro178=
NM_017974.3:c.823C=	NP_060444.3:p.Pro275=
NM_030803.6:c.880C=	NP_110430.5:p.Pro294=
NM_198890.2:c.391C=	NP_942593.2:p.Pro131=
XM_005246082.1:c.931C=	XP_005246139.1:p.Pro311=
XM_005246084.1:c.499C=	XP_005246141.1:p.Pro167=
XM_005246086.1:c.448C=	XP_005246143.1:p.Pro150=
XM_006712608.1:c.679C=	XP_006712671.1:p.Pro227=
XR_241242.1:n.1125C=
NM_001363742.1:c.931C=	NP_001350671.1:p.Pro311=
XM_005246084.2:c.499C=	XP_005246141.1:p.Pro167=
XM_005246086.2:c.448C=	XP_005246143.1:p.Pro150=
XM_006712608.3:c.679C=	XP_006712671.1:p.Pro227=
XR_001738801.2:n.1061C=
XR_241242.3:n.1112C=
NM_030803.7:c.880C= MANE Select	NP_110430.5:p.Pro294=
NM_001190266.2:c.628C=	NP_001177195.1:p.Pro210=
NM_001190267.2:c.532C=	NP_001177196.1:p.Pro178=
NM_001363742.2:c.931C=	NP_001350671.1:p.Pro311=
NM_017974.4:c.823C=	NP_060444.3:p.Pro275=
NM_198890.3:c.391C=	NP_942593.2:p.Pro131=