Canonical Allele Identifier: CA351046234

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183342T>G (hg19) ; chr2:g.233274696T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274696T>G , CM000664.2:g.233274696T>G	GRCh38
NC_000002.11:g.234183342T>G , CM000664.1:g.234183342T>G	GRCh37
NC_000002.10:g.233848081T>G	NCBI36
NG_023038.1:g.28126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.872T>G MANE Select	ENSP00000375872.4:p.Phe291Cys
ENST00000347464.9:c.383T>G	ENSP00000318259.6:p.Phe128Cys
ENST00000373525.9:c.440T>G	ENSP00000362625.5:p.Phe147Cys
ENST00000392017.8:c.872T>G	ENSP00000375872.4:p.Phe291Cys
ENST00000392018.1:c.923T>G	ENSP00000375873.1:p.Phe308Cys
ENST00000392020.8:c.815T>G	ENSP00000375875.4:p.Phe272Cys
ENST00000392021.7:c.*753T>G	ENSP00000375876.3:n.*753T>G
ENST00000419681.5:c.383T>G	ENSP00000398773.1:p.Phe128Cys
ENST00000444735.5:c.491T>G	ENSP00000409215.1:p.Phe164Cys
ENST00000474148.5:n.1667T>G
ENST00000479942.5:n.1018T>G
ENST00000492298.5:n.393T>G
ENST00000498620.5:n.379T>G
NM_001190266.1:c.620T>G	NP_001177195.1:p.Phe207Cys
NM_001190267.1:c.524T>G	NP_001177196.1:p.Phe175Cys
NM_017974.3:c.815T>G	NP_060444.3:p.Phe272Cys
NM_030803.6:c.872T>G	NP_110430.5:p.Phe291Cys
NM_198890.2:c.383T>G	NP_942593.2:p.Phe128Cys
XM_005246082.1:c.923T>G	XP_005246139.1:p.Phe308Cys
XM_005246084.1:c.491T>G	XP_005246141.1:p.Phe164Cys
XM_005246086.1:c.440T>G	XP_005246143.1:p.Phe147Cys
XM_006712608.1:c.671T>G	XP_006712671.1:p.Phe224Cys
XR_241242.1:n.1117T>G
NM_001363742.1:c.923T>G	NP_001350671.1:p.Phe308Cys
XM_005246084.2:c.491T>G	XP_005246141.1:p.Phe164Cys
XM_005246086.2:c.440T>G	XP_005246143.1:p.Phe147Cys
XM_006712608.3:c.671T>G	XP_006712671.1:p.Phe224Cys
XR_001738801.2:n.1053T>G
XR_241242.3:n.1104T>G
NM_030803.7:c.872T>G MANE Select	NP_110430.5:p.Phe291Cys
NM_001190266.2:c.620T>G	NP_001177195.1:p.Phe207Cys
NM_001190267.2:c.524T>G	NP_001177196.1:p.Phe175Cys
NM_001363742.2:c.923T>G	NP_001350671.1:p.Phe308Cys
NM_017974.4:c.815T>G	NP_060444.3:p.Phe272Cys
NM_198890.3:c.383T>G	NP_942593.2:p.Phe128Cys