Canonical Allele Identifier: CA351046680

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183411C>A (hg19) ; chr2:g.233274765C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274765C>A , CM000664.2:g.233274765C>A	GRCh38
NC_000002.11:g.234183411C>A , CM000664.1:g.234183411C>A	GRCh37
NC_000002.10:g.233848150C>A	NCBI36
NG_023038.1:g.28195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.941C>A MANE Select	ENSP00000375872.4:p.Ala314Asp
ENST00000347464.9:c.452C>A	ENSP00000318259.6:p.Ala151Asp
ENST00000373525.9:c.509C>A	ENSP00000362625.5:p.Ala170Asp
ENST00000392017.8:c.941C>A	ENSP00000375872.4:p.Ala314Asp
ENST00000392018.1:c.992C>A	ENSP00000375873.1:p.Ala331Asp
ENST00000392020.8:c.884C>A	ENSP00000375875.4:p.Ala295Asp
ENST00000392021.7:c.*822C>A	ENSP00000375876.3:n.*822C>A
ENST00000419681.5:c.452C>A	ENSP00000398773.1:p.Ala151Asp
ENST00000474148.5:n.1736C>A
ENST00000479942.5:n.1087C>A
ENST00000492298.5:n.462C>A
ENST00000498620.5:n.448C>A
NM_001190266.1:c.689C>A	NP_001177195.1:p.Ala230Asp
NM_001190267.1:c.593C>A	NP_001177196.1:p.Ala198Asp
NM_017974.3:c.884C>A	NP_060444.3:p.Ala295Asp
NM_030803.6:c.941C>A	NP_110430.5:p.Ala314Asp
NM_198890.2:c.452C>A	NP_942593.2:p.Ala151Asp
XM_005246082.1:c.992C>A	XP_005246139.1:p.Ala331Asp
XM_005246084.1:c.560C>A	XP_005246141.1:p.Ala187Asp
XM_005246086.1:c.509C>A	XP_005246143.1:p.Ala170Asp
XM_006712608.1:c.740C>A	XP_006712671.1:p.Ala247Asp
XR_241242.1:n.1186C>A
NM_001363742.1:c.992C>A	NP_001350671.1:p.Ala331Asp
XM_005246084.2:c.560C>A	XP_005246141.1:p.Ala187Asp
XM_005246086.2:c.509C>A	XP_005246143.1:p.Ala170Asp
XM_006712608.3:c.740C>A	XP_006712671.1:p.Ala247Asp
XR_001738801.2:n.1122C>A
XR_241242.3:n.1173C>A
NM_030803.7:c.941C>A MANE Select	NP_110430.5:p.Ala314Asp
NM_001190266.2:c.689C>A	NP_001177195.1:p.Ala230Asp
NM_001190267.2:c.593C>A	NP_001177196.1:p.Ala198Asp
NM_001363742.2:c.992C>A	NP_001350671.1:p.Ala331Asp
NM_017974.4:c.884C>A	NP_060444.3:p.Ala295Asp
NM_198890.3:c.452C>A	NP_942593.2:p.Ala151Asp