Canonical Allele Identifier: CA351046378
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274732G>C , CM000664.2:g.233274732G>C GRCh38
NC_000002.11:g.234183378G>C , CM000664.1:g.234183378G>C GRCh37
NC_000002.10:g.233848117G>C NCBI36
NG_023038.1:g.28162G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.908G>C MANE Select ENSP00000375872.4:p.Gly303Ala
ENST00000347464.9:c.419G>C ENSP00000318259.6:p.Gly140Ala
ENST00000373525.9:c.476G>C ENSP00000362625.5:p.Gly159Ala
ENST00000392017.8:c.908G>C ENSP00000375872.4:p.Gly303Ala
ENST00000392018.1:c.959G>C ENSP00000375873.1:p.Gly320Ala
ENST00000392020.8:c.851G>C ENSP00000375875.4:p.Gly284Ala
ENST00000392021.7:c.*789G>C ENSP00000375876.3:n.*789G>C
ENST00000419681.5:c.419G>C ENSP00000398773.1:p.Gly140Ala
ENST00000444735.5:c.527G>C ENSP00000409215.1:p.Gly176Ala
ENST00000474148.5:n.1703G>C
ENST00000479942.5:n.1054G>C
ENST00000492298.5:n.429G>C
ENST00000498620.5:n.415G>C
NM_001190266.1:c.656G>C NP_001177195.1:p.Gly219Ala
NM_001190267.1:c.560G>C NP_001177196.1:p.Gly187Ala
NM_017974.3:c.851G>C NP_060444.3:p.Gly284Ala
NM_030803.6:c.908G>C NP_110430.5:p.Gly303Ala
NM_198890.2:c.419G>C NP_942593.2:p.Gly140Ala
XM_005246082.1:c.959G>C XP_005246139.1:p.Gly320Ala
XM_005246084.1:c.527G>C XP_005246141.1:p.Gly176Ala
XM_005246086.1:c.476G>C XP_005246143.1:p.Gly159Ala
XM_006712608.1:c.707G>C XP_006712671.1:p.Gly236Ala
XR_241242.1:n.1153G>C
NM_001363742.1:c.959G>C NP_001350671.1:p.Gly320Ala
XM_005246084.2:c.527G>C XP_005246141.1:p.Gly176Ala
XM_005246086.2:c.476G>C XP_005246143.1:p.Gly159Ala
XM_006712608.3:c.707G>C XP_006712671.1:p.Gly236Ala
XR_001738801.2:n.1089G>C
XR_241242.3:n.1140G>C
NM_030803.7:c.908G>C MANE Select NP_110430.5:p.Gly303Ala
NM_001190266.2:c.656G>C NP_001177195.1:p.Gly219Ala
NM_001190267.2:c.560G>C NP_001177196.1:p.Gly187Ala
NM_001363742.2:c.959G>C NP_001350671.1:p.Gly320Ala
NM_017974.4:c.851G>C NP_060444.3:p.Gly284Ala
NM_198890.3:c.419G>C NP_942593.2:p.Gly140Ala