Canonical Allele Identifier: CA351046668

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183405C>A (hg19) ; chr2:g.233274759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274759C>A , CM000664.2:g.233274759C>A	GRCh38
NC_000002.11:g.234183405C>A , CM000664.1:g.234183405C>A	GRCh37
NC_000002.10:g.233848144C>A	NCBI36
NG_023038.1:g.28189C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.935C>A MANE Select	ENSP00000375872.4:p.Ala312Asp
ENST00000347464.9:c.446C>A	ENSP00000318259.6:p.Ala149Asp
ENST00000373525.9:c.503C>A	ENSP00000362625.5:p.Ala168Asp
ENST00000392017.8:c.935C>A	ENSP00000375872.4:p.Ala312Asp
ENST00000392018.1:c.986C>A	ENSP00000375873.1:p.Ala329Asp
ENST00000392020.8:c.878C>A	ENSP00000375875.4:p.Ala293Asp
ENST00000392021.7:c.*816C>A	ENSP00000375876.3:n.*816C>A
ENST00000419681.5:c.446C>A	ENSP00000398773.1:p.Ala149Asp
ENST00000474148.5:n.1730C>A
ENST00000479942.5:n.1081C>A
ENST00000492298.5:n.456C>A
ENST00000498620.5:n.442C>A
NM_001190266.1:c.683C>A	NP_001177195.1:p.Ala228Asp
NM_001190267.1:c.587C>A	NP_001177196.1:p.Ala196Asp
NM_017974.3:c.878C>A	NP_060444.3:p.Ala293Asp
NM_030803.6:c.935C>A	NP_110430.5:p.Ala312Asp
NM_198890.2:c.446C>A	NP_942593.2:p.Ala149Asp
XM_005246082.1:c.986C>A	XP_005246139.1:p.Ala329Asp
XM_005246084.1:c.554C>A	XP_005246141.1:p.Ala185Asp
XM_005246086.1:c.503C>A	XP_005246143.1:p.Ala168Asp
XM_006712608.1:c.734C>A	XP_006712671.1:p.Ala245Asp
XR_241242.1:n.1180C>A
NM_001363742.1:c.986C>A	NP_001350671.1:p.Ala329Asp
XM_005246084.2:c.554C>A	XP_005246141.1:p.Ala185Asp
XM_005246086.2:c.503C>A	XP_005246143.1:p.Ala168Asp
XM_006712608.3:c.734C>A	XP_006712671.1:p.Ala245Asp
XR_001738801.2:n.1116C>A
XR_241242.3:n.1167C>A
NM_030803.7:c.935C>A MANE Select	NP_110430.5:p.Ala312Asp
NM_001190266.2:c.683C>A	NP_001177195.1:p.Ala228Asp
NM_001190267.2:c.587C>A	NP_001177196.1:p.Ala196Asp
NM_001363742.2:c.986C>A	NP_001350671.1:p.Ala329Asp
NM_017974.4:c.878C>A	NP_060444.3:p.Ala293Asp
NM_198890.3:c.446C>A	NP_942593.2:p.Ala149Asp