Canonical Allele Identifier: CA351046663

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183402C>G (hg19) ; chr2:g.233274756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274756C>G , CM000664.2:g.233274756C>G	GRCh38
NC_000002.11:g.234183402C>G , CM000664.1:g.234183402C>G	GRCh37
NC_000002.10:g.233848141C>G	NCBI36
NG_023038.1:g.28186C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.932C>G MANE Select	ENSP00000375872.4:p.Pro311Arg
ENST00000347464.9:c.443C>G	ENSP00000318259.6:p.Pro148Arg
ENST00000373525.9:c.500C>G	ENSP00000362625.5:p.Pro167Arg
ENST00000392017.8:c.932C>G	ENSP00000375872.4:p.Pro311Arg
ENST00000392018.1:c.983C>G	ENSP00000375873.1:p.Pro328Arg
ENST00000392020.8:c.875C>G	ENSP00000375875.4:p.Pro292Arg
ENST00000392021.7:c.*813C>G	ENSP00000375876.3:n.*813C>G
ENST00000419681.5:c.443C>G	ENSP00000398773.1:p.Pro148Arg
ENST00000474148.5:n.1727C>G
ENST00000479942.5:n.1078C>G
ENST00000492298.5:n.453C>G
ENST00000498620.5:n.439C>G
NM_001190266.1:c.680C>G	NP_001177195.1:p.Pro227Arg
NM_001190267.1:c.584C>G	NP_001177196.1:p.Pro195Arg
NM_017974.3:c.875C>G	NP_060444.3:p.Pro292Arg
NM_030803.6:c.932C>G	NP_110430.5:p.Pro311Arg
NM_198890.2:c.443C>G	NP_942593.2:p.Pro148Arg
XM_005246082.1:c.983C>G	XP_005246139.1:p.Pro328Arg
XM_005246084.1:c.551C>G	XP_005246141.1:p.Pro184Arg
XM_005246086.1:c.500C>G	XP_005246143.1:p.Pro167Arg
XM_006712608.1:c.731C>G	XP_006712671.1:p.Pro244Arg
XR_241242.1:n.1177C>G
NM_001363742.1:c.983C>G	NP_001350671.1:p.Pro328Arg
XM_005246084.2:c.551C>G	XP_005246141.1:p.Pro184Arg
XM_005246086.2:c.500C>G	XP_005246143.1:p.Pro167Arg
XM_006712608.3:c.731C>G	XP_006712671.1:p.Pro244Arg
XR_001738801.2:n.1113C>G
XR_241242.3:n.1164C>G
NM_030803.7:c.932C>G MANE Select	NP_110430.5:p.Pro311Arg
NM_001190266.2:c.680C>G	NP_001177195.1:p.Pro227Arg
NM_001190267.2:c.584C>G	NP_001177196.1:p.Pro195Arg
NM_001363742.2:c.983C>G	NP_001350671.1:p.Pro328Arg
NM_017974.4:c.875C>G	NP_060444.3:p.Pro292Arg
NM_198890.3:c.443C>G	NP_942593.2:p.Pro148Arg