Canonical Allele Identifier: CA1335666660
Gene: ATG16L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274688C= , CM000664.2:g.233274688C= GRCh38
NC_000002.11:g.234183334C= , CM000664.1:g.234183334C= GRCh37
NC_000002.10:g.233848073C= NCBI36
NG_023038.1:g.28118C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.864C= MANE Select ENSP00000375872.4:p.Val288=
ENST00000347464.9:c.375C= ENSP00000318259.6:p.Val125=
ENST00000373525.9:c.432C= ENSP00000362625.5:p.Val144=
ENST00000392017.8:c.864C= ENSP00000375872.4:p.Val288=
ENST00000392018.1:c.915C= ENSP00000375873.1:p.Val305=
ENST00000392020.8:c.807C= ENSP00000375875.4:p.Val269=
ENST00000392021.7:c.*745C= ENSP00000375876.3:n.*745C=
ENST00000419681.5:c.375C= ENSP00000398773.1:p.Val125=
ENST00000444735.5:c.483C= ENSP00000409215.1:p.Val161=
ENST00000474148.5:n.1659C=
ENST00000479942.5:n.1010C=
ENST00000492298.5:n.385C=
ENST00000498620.5:n.371C=
NM_001190266.1:c.612C= NP_001177195.1:p.Val204=
NM_001190267.1:c.516C= NP_001177196.1:p.Val172=
NM_017974.3:c.807C= NP_060444.3:p.Val269=
NM_030803.6:c.864C= NP_110430.5:p.Val288=
NM_198890.2:c.375C= NP_942593.2:p.Val125=
XM_005246082.1:c.915C= XP_005246139.1:p.Val305=
XM_005246084.1:c.483C= XP_005246141.1:p.Val161=
XM_005246086.1:c.432C= XP_005246143.1:p.Val144=
XM_006712608.1:c.663C= XP_006712671.1:p.Val221=
XR_241242.1:n.1109C=
NM_001363742.1:c.915C= NP_001350671.1:p.Val305=
XM_005246084.2:c.483C= XP_005246141.1:p.Val161=
XM_005246086.2:c.432C= XP_005246143.1:p.Val144=
XM_006712608.3:c.663C= XP_006712671.1:p.Val221=
XR_001738801.2:n.1045C=
XR_241242.3:n.1096C=
NM_030803.7:c.864C= MANE Select NP_110430.5:p.Val288=
NM_001190266.2:c.612C= NP_001177195.1:p.Val204=
NM_001190267.2:c.516C= NP_001177196.1:p.Val172=
NM_001363742.2:c.915C= NP_001350671.1:p.Val305=
NM_017974.4:c.807C= NP_060444.3:p.Val269=
NM_198890.3:c.375C= NP_942593.2:p.Val125=