Canonical Allele Identifier: CA351046230

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183341T>G (hg19) ; chr2:g.233274695T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274695T>G , CM000664.2:g.233274695T>G	GRCh38
NC_000002.11:g.234183341T>G , CM000664.1:g.234183341T>G	GRCh37
NC_000002.10:g.233848080T>G	NCBI36
NG_023038.1:g.28125T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.871T>G MANE Select	ENSP00000375872.4:p.Phe291Val
ENST00000347464.9:c.382T>G	ENSP00000318259.6:p.Phe128Val
ENST00000373525.9:c.439T>G	ENSP00000362625.5:p.Phe147Val
ENST00000392017.8:c.871T>G	ENSP00000375872.4:p.Phe291Val
ENST00000392018.1:c.922T>G	ENSP00000375873.1:p.Phe308Val
ENST00000392020.8:c.814T>G	ENSP00000375875.4:p.Phe272Val
ENST00000392021.7:c.*752T>G	ENSP00000375876.3:n.*752T>G
ENST00000419681.5:c.382T>G	ENSP00000398773.1:p.Phe128Val
ENST00000444735.5:c.490T>G	ENSP00000409215.1:p.Phe164Val
ENST00000474148.5:n.1666T>G
ENST00000479942.5:n.1017T>G
ENST00000492298.5:n.392T>G
ENST00000498620.5:n.378T>G
NM_001190266.1:c.619T>G	NP_001177195.1:p.Phe207Val
NM_001190267.1:c.523T>G	NP_001177196.1:p.Phe175Val
NM_017974.3:c.814T>G	NP_060444.3:p.Phe272Val
NM_030803.6:c.871T>G	NP_110430.5:p.Phe291Val
NM_198890.2:c.382T>G	NP_942593.2:p.Phe128Val
XM_005246082.1:c.922T>G	XP_005246139.1:p.Phe308Val
XM_005246084.1:c.490T>G	XP_005246141.1:p.Phe164Val
XM_005246086.1:c.439T>G	XP_005246143.1:p.Phe147Val
XM_006712608.1:c.670T>G	XP_006712671.1:p.Phe224Val
XR_241242.1:n.1116T>G
NM_001363742.1:c.922T>G	NP_001350671.1:p.Phe308Val
XM_005246084.2:c.490T>G	XP_005246141.1:p.Phe164Val
XM_005246086.2:c.439T>G	XP_005246143.1:p.Phe147Val
XM_006712608.3:c.670T>G	XP_006712671.1:p.Phe224Val
XR_001738801.2:n.1052T>G
XR_241242.3:n.1103T>G
NM_030803.7:c.871T>G MANE Select	NP_110430.5:p.Phe291Val
NM_001190266.2:c.619T>G	NP_001177195.1:p.Phe207Val
NM_001190267.2:c.523T>G	NP_001177196.1:p.Phe175Val
NM_001363742.2:c.922T>G	NP_001350671.1:p.Phe308Val
NM_017974.4:c.814T>G	NP_060444.3:p.Phe272Val
NM_198890.3:c.382T>G	NP_942593.2:p.Phe128Val