Canonical Allele Identifier: CA351040278
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233264972G>C , CM000664.2:g.233264972G>C GRCh38
NC_000002.11:g.234173618G>C , CM000664.1:g.234173618G>C GRCh37
NC_000002.10:g.233838357G>C NCBI36
NG_023038.1:g.18402G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.470G>C MANE Select ENSP00000375872.4:p.Arg157Thr
ENST00000347464.9:c.210-5030G>C ENSP00000318259.6:n.210-5030G>C
ENST00000373525.9:c.210-5030G>C ENSP00000362625.5:n.210-5030G>C
ENST00000392017.8:c.470G>C ENSP00000375872.4:p.Arg157Thr
ENST00000392018.1:c.470G>C ENSP00000375873.1:p.Arg157Thr
ENST00000392020.8:c.470G>C ENSP00000375875.4:p.Arg157Thr
ENST00000392021.7:c.*351G>C ENSP00000375876.3:n.*351G>C
ENST00000417017.5:c.389+907G>C ENSP00000412046.1:n.389+907G>C
ENST00000419681.5:c.210-5030G>C ENSP00000398773.1:n.210-5030G>C
ENST00000444735.5:c.210-5030G>C ENSP00000409215.1:n.210-5030G>C
ENST00000474148.5:n.597G>C
ENST00000479942.5:n.616G>C
NM_001190266.1:c.218G>C NP_001177195.1:p.Arg73Thr
NM_001190267.1:c.122G>C NP_001177196.1:p.Arg41Thr
NM_017974.3:c.470G>C NP_060444.3:p.Arg157Thr
NM_030803.6:c.470G>C NP_110430.5:p.Arg157Thr
NM_198890.2:c.210-5030G>C NP_942593.2:n.210-5030G>C
XM_005246082.1:c.470G>C XP_005246139.1:p.Arg157Thr
XM_005246084.1:c.210-5030G>C XP_005246141.1:n.210-5030G>C
XM_005246086.1:c.210-5030G>C XP_005246143.1:n.210-5030G>C
XM_006712608.1:c.389+907G>C XP_006712671.1:n.389+907G>C
XR_241242.1:n.664G>C
NM_001363742.1:c.470G>C NP_001350671.1:p.Arg157Thr
XM_005246084.2:c.210-5030G>C XP_005246141.1:n.210-5030G>C
XM_005246086.2:c.210-5030G>C XP_005246143.1:n.210-5030G>C
XM_006712608.3:c.389+907G>C XP_006712671.1:n.389+907G>C
XR_001738801.2:n.651G>C
XR_241242.3:n.651G>C
NM_030803.7:c.470G>C MANE Select NP_110430.5:p.Arg157Thr
NM_001190266.2:c.218G>C NP_001177195.1:p.Arg73Thr
NM_001190267.2:c.122G>C NP_001177196.1:p.Arg41Thr
NM_001363742.2:c.470G>C NP_001350671.1:p.Arg157Thr
NM_017974.4:c.470G>C NP_060444.3:p.Arg157Thr
NM_198890.3:c.210-5030G>C NP_942593.2:n.210-5030G>C