Canonical Allele Identifier: CA351046164

Gene: ATG16L1

Linked Data

• gnomAD v4: 2-233274678-G-A
• MyVariant Identifiers: chr2:g.234183324G>A (hg19) ; chr2:g.233274678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274678G>A , CM000664.2:g.233274678G>A	GRCh38
NC_000002.11:g.234183324G>A , CM000664.1:g.234183324G>A	GRCh37
NC_000002.10:g.233848063G>A	NCBI36
NG_023038.1:g.28108G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392017.9:c.854G>A MANE Select	ENSP00000375872.4:p.Arg285Lys
ENST00000347464.9:c.365G>A	ENSP00000318259.6:p.Arg122Lys
ENST00000373525.9:c.422G>A	ENSP00000362625.5:p.Arg141Lys
ENST00000392017.8:c.854G>A	ENSP00000375872.4:p.Arg285Lys
ENST00000392018.1:c.905G>A	ENSP00000375873.1:p.Arg302Lys
ENST00000392020.8:c.797G>A	ENSP00000375875.4:p.Arg266Lys
ENST00000392021.7:c.*735G>A	ENSP00000375876.3:n.*735G>A
ENST00000419681.5:c.365G>A	ENSP00000398773.1:p.Arg122Lys
ENST00000444735.5:c.473G>A	ENSP00000409215.1:p.Arg158Lys
ENST00000474148.5:n.1649G>A
ENST00000479942.5:n.1000G>A
ENST00000492298.5:n.375G>A
ENST00000498620.5:n.361G>A
NM_001190266.1:c.602G>A	NP_001177195.1:p.Arg201Lys
NM_001190267.1:c.506G>A	NP_001177196.1:p.Arg169Lys
NM_017974.3:c.797G>A	NP_060444.3:p.Arg266Lys
NM_030803.6:c.854G>A	NP_110430.5:p.Arg285Lys
NM_198890.2:c.365G>A	NP_942593.2:p.Arg122Lys
XM_005246082.1:c.905G>A	XP_005246139.1:p.Arg302Lys
XM_005246084.1:c.473G>A	XP_005246141.1:p.Arg158Lys
XM_005246086.1:c.422G>A	XP_005246143.1:p.Arg141Lys
XM_006712608.1:c.653G>A	XP_006712671.1:p.Arg218Lys
XR_241242.1:n.1099G>A
NM_001363742.1:c.905G>A	NP_001350671.1:p.Arg302Lys
XM_005246084.2:c.473G>A	XP_005246141.1:p.Arg158Lys
XM_005246086.2:c.422G>A	XP_005246143.1:p.Arg141Lys
XM_006712608.3:c.653G>A	XP_006712671.1:p.Arg218Lys
XR_001738801.2:n.1035G>A
XR_241242.3:n.1086G>A
NM_030803.7:c.854G>A MANE Select	NP_110430.5:p.Arg285Lys
NM_001190266.2:c.602G>A	NP_001177195.1:p.Arg201Lys
NM_001190267.2:c.506G>A	NP_001177196.1:p.Arg169Lys
NM_001363742.2:c.905G>A	NP_001350671.1:p.Arg302Lys
NM_017974.4:c.797G>A	NP_060444.3:p.Arg266Lys
NM_198890.3:c.365G>A	NP_942593.2:p.Arg122Lys