Canonical Allele Identifier: CA351046396
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274737G>C , CM000664.2:g.233274737G>C GRCh38
NC_000002.11:g.234183383G>C , CM000664.1:g.234183383G>C GRCh37
NC_000002.10:g.233848122G>C NCBI36
NG_023038.1:g.28167G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.913G>C MANE Select ENSP00000375872.4:p.Gly305Arg
ENST00000347464.9:c.424G>C ENSP00000318259.6:p.Gly142Arg
ENST00000373525.9:c.481G>C ENSP00000362625.5:p.Gly161Arg
ENST00000392017.8:c.913G>C ENSP00000375872.4:p.Gly305Arg
ENST00000392018.1:c.964G>C ENSP00000375873.1:p.Gly322Arg
ENST00000392020.8:c.856G>C ENSP00000375875.4:p.Gly286Arg
ENST00000392021.7:c.*794G>C ENSP00000375876.3:n.*794G>C
ENST00000419681.5:c.424G>C ENSP00000398773.1:p.Gly142Arg
ENST00000444735.5:c.532G>C
ENST00000474148.5:n.1708G>C
ENST00000479942.5:n.1059G>C
ENST00000492298.5:n.434G>C
ENST00000498620.5:n.420G>C
NM_001190266.1:c.661G>C NP_001177195.1:p.Gly221Arg
NM_001190267.1:c.565G>C NP_001177196.1:p.Gly189Arg
NM_017974.3:c.856G>C NP_060444.3:p.Gly286Arg
NM_030803.6:c.913G>C NP_110430.5:p.Gly305Arg
NM_198890.2:c.424G>C NP_942593.2:p.Gly142Arg
XM_005246082.1:c.964G>C XP_005246139.1:p.Gly322Arg
XM_005246084.1:c.532G>C XP_005246141.1:p.Gly178Arg
XM_005246086.1:c.481G>C XP_005246143.1:p.Gly161Arg
XM_006712608.1:c.712G>C XP_006712671.1:p.Gly238Arg
XR_241242.1:n.1158G>C
NM_001363742.1:c.964G>C NP_001350671.1:p.Gly322Arg
XM_005246084.2:c.532G>C XP_005246141.1:p.Gly178Arg
XM_005246086.2:c.481G>C XP_005246143.1:p.Gly161Arg
XM_006712608.3:c.712G>C XP_006712671.1:p.Gly238Arg
XR_001738801.2:n.1094G>C
XR_241242.3:n.1145G>C
NM_030803.7:c.913G>C MANE Select NP_110430.5:p.Gly305Arg
NM_001190266.2:c.661G>C NP_001177195.1:p.Gly221Arg
NM_001190267.2:c.565G>C NP_001177196.1:p.Gly189Arg
NM_001363742.2:c.964G>C NP_001350671.1:p.Gly322Arg
NM_017974.4:c.856G>C NP_060444.3:p.Gly286Arg
NM_198890.3:c.424G>C NP_942593.2:p.Gly142Arg