Canonical Allele Identifier: CA431820853

Gene: ATG16L1

Linked Data

• dbSNP Id: rs1559396202
• MyVariant Identifiers: chr2:g.234183406T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274760T>A , CM000664.2:g.233274760T>A	GRCh38
NC_000002.11:g.234183406T>A , CM000664.1:g.234183406T>A	GRCh37
NC_000002.10:g.233848145T>A	NCBI36
NG_023038.1:g.28190T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.936T>A MANE Select	ENSP00000375872.4:p.Ala312=
ENST00000347464.9:c.447T>A	ENSP00000318259.6:p.Ala149=
ENST00000373525.9:c.504T>A	ENSP00000362625.5:p.Ala168=
ENST00000392017.8:c.936T>A	ENSP00000375872.4:p.Ala312=
ENST00000392018.1:c.987T>A	ENSP00000375873.1:p.Ala329=
ENST00000392020.8:c.879T>A	ENSP00000375875.4:p.Ala293=
ENST00000392021.7:c.*817T>A	ENSP00000375876.3:n.*817T>A
ENST00000419681.5:c.447T>A	ENSP00000398773.1:p.Ala149=
ENST00000474148.5:n.1731T>A
ENST00000479942.5:n.1082T>A
ENST00000492298.5:n.457T>A
ENST00000498620.5:n.443T>A
NM_001190266.1:c.684T>A	NP_001177195.1:p.Ala228=
NM_001190267.1:c.588T>A	NP_001177196.1:p.Ala196=
NM_017974.3:c.879T>A	NP_060444.3:p.Ala293=
NM_030803.6:c.936T>A	NP_110430.5:p.Ala312=
NM_198890.2:c.447T>A	NP_942593.2:p.Ala149=
XM_005246082.1:c.987T>A	XP_005246139.1:p.Ala329=
XM_005246084.1:c.555T>A	XP_005246141.1:p.Ala185=
XM_005246086.1:c.504T>A	XP_005246143.1:p.Ala168=
XM_006712608.1:c.735T>A	XP_006712671.1:p.Ala245=
XR_241242.1:n.1181T>A
NM_001363742.1:c.987T>A	NP_001350671.1:p.Ala329=
XM_005246084.2:c.555T>A	XP_005246141.1:p.Ala185=
XM_005246086.2:c.504T>A	XP_005246143.1:p.Ala168=
XM_006712608.3:c.735T>A	XP_006712671.1:p.Ala245=
XR_001738801.2:n.1117T>A
XR_241242.3:n.1168T>A
NM_030803.7:c.936T>A MANE Select	NP_110430.5:p.Ala312=
NM_001190266.2:c.684T>A	NP_001177195.1:p.Ala228=
NM_001190267.2:c.588T>A	NP_001177196.1:p.Ala196=
NM_001363742.2:c.987T>A	NP_001350671.1:p.Ala329=
NM_017974.4:c.879T>A	NP_060444.3:p.Ala293=
NM_198890.3:c.447T>A	NP_942593.2:p.Ala149=