Canonical Allele Identifier: CA351046288
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs1197262857

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274711A>G , CM000664.2:g.233274711A>G GRCh38
NC_000002.11:g.234183357A>G , CM000664.1:g.234183357A>G GRCh37
NC_000002.10:g.233848096A>G NCBI36
NG_023038.1:g.28141A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.887A>G MANE Select ENSP00000375872.4:p.Asp296Gly
ENST00000347464.9:c.398A>G ENSP00000318259.6:p.Asp133Gly
ENST00000373525.9:c.455A>G ENSP00000362625.5:p.Asp152Gly
ENST00000392017.8:c.887A>G ENSP00000375872.4:p.Asp296Gly
ENST00000392018.1:c.938A>G ENSP00000375873.1:p.Asp313Gly
ENST00000392020.8:c.830A>G ENSP00000375875.4:p.Asp277Gly
ENST00000392021.7:c.*768A>G ENSP00000375876.3:n.*768A>G
ENST00000419681.5:c.398A>G ENSP00000398773.1:p.Asp133Gly
ENST00000444735.5:c.506A>G ENSP00000409215.1:p.Asp169Gly
ENST00000474148.5:n.1682A>G
ENST00000479942.5:n.1033A>G
ENST00000492298.5:n.408A>G
ENST00000498620.5:n.394A>G
NM_001190266.1:c.635A>G NP_001177195.1:p.Asp212Gly
NM_001190267.1:c.539A>G NP_001177196.1:p.Asp180Gly
NM_017974.3:c.830A>G NP_060444.3:p.Asp277Gly
NM_030803.6:c.887A>G NP_110430.5:p.Asp296Gly
NM_198890.2:c.398A>G NP_942593.2:p.Asp133Gly
XM_005246082.1:c.938A>G XP_005246139.1:p.Asp313Gly
XM_005246084.1:c.506A>G XP_005246141.1:p.Asp169Gly
XM_005246086.1:c.455A>G XP_005246143.1:p.Asp152Gly
XM_006712608.1:c.686A>G XP_006712671.1:p.Asp229Gly
XR_241242.1:n.1132A>G
NM_001363742.1:c.938A>G NP_001350671.1:p.Asp313Gly
XM_005246084.2:c.506A>G XP_005246141.1:p.Asp169Gly
XM_005246086.2:c.455A>G XP_005246143.1:p.Asp152Gly
XM_006712608.3:c.686A>G XP_006712671.1:p.Asp229Gly
XR_001738801.2:n.1068A>G
XR_241242.3:n.1119A>G
NM_030803.7:c.887A>G MANE Select NP_110430.5:p.Asp296Gly
NM_001190266.2:c.635A>G NP_001177195.1:p.Asp212Gly
NM_001190267.2:c.539A>G NP_001177196.1:p.Asp180Gly
NM_001363742.2:c.938A>G NP_001350671.1:p.Asp313Gly
NM_017974.4:c.830A>G NP_060444.3:p.Asp277Gly
NM_198890.3:c.398A>G NP_942593.2:p.Asp133Gly