Canonical Allele Identifier: CA1335666656

Gene: ATG16L1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274680C= , CM000664.2:g.233274680C=	GRCh38
NC_000002.11:g.234183326C= , CM000664.1:g.234183326C=	GRCh37
NC_000002.10:g.233848065C=	NCBI36
NG_023038.1:g.28110C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.856C= MANE Select	ENSP00000375872.4:p.Arg286=
ENST00000347464.9:c.367C=	ENSP00000318259.6:p.Arg123=
ENST00000373525.9:c.424C=	ENSP00000362625.5:p.Arg142=
ENST00000392017.8:c.856C=	ENSP00000375872.4:p.Arg286=
ENST00000392018.1:c.907C=	ENSP00000375873.1:p.Arg303=
ENST00000392020.8:c.799C=	ENSP00000375875.4:p.Arg267=
ENST00000392021.7:c.*737C=	ENSP00000375876.3:n.*737C=
ENST00000419681.5:c.367C=	ENSP00000398773.1:p.Arg123=
ENST00000444735.5:c.475C=	ENSP00000409215.1:p.Arg159=
ENST00000474148.5:n.1651C=
ENST00000479942.5:n.1002C=
ENST00000492298.5:n.377C=
ENST00000498620.5:n.363C=
NM_001190266.1:c.604C=	NP_001177195.1:p.Arg202=
NM_001190267.1:c.508C=	NP_001177196.1:p.Arg170=
NM_017974.3:c.799C=	NP_060444.3:p.Arg267=
NM_030803.6:c.856C=	NP_110430.5:p.Arg286=
NM_198890.2:c.367C=	NP_942593.2:p.Arg123=
XM_005246082.1:c.907C=	XP_005246139.1:p.Arg303=
XM_005246084.1:c.475C=	XP_005246141.1:p.Arg159=
XM_005246086.1:c.424C=	XP_005246143.1:p.Arg142=
XM_006712608.1:c.655C=	XP_006712671.1:p.Arg219=
XR_241242.1:n.1101C=
NM_001363742.1:c.907C=	NP_001350671.1:p.Arg303=
XM_005246084.2:c.475C=	XP_005246141.1:p.Arg159=
XM_005246086.2:c.424C=	XP_005246143.1:p.Arg142=
XM_006712608.3:c.655C=	XP_006712671.1:p.Arg219=
XR_001738801.2:n.1037C=
XR_241242.3:n.1088C=
NM_030803.7:c.856C= MANE Select	NP_110430.5:p.Arg286=
NM_001190266.2:c.604C=	NP_001177195.1:p.Arg202=
NM_001190267.2:c.508C=	NP_001177196.1:p.Arg170=
NM_001363742.2:c.907C=	NP_001350671.1:p.Arg303=
NM_017974.4:c.799C=	NP_060444.3:p.Arg267=
NM_198890.3:c.367C=	NP_942593.2:p.Arg123=