Canonical Allele Identifier: CA1335666682
Gene: ATG16L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274748G= , CM000664.2:g.233274748G= GRCh38
NC_000002.11:g.234183394G= , CM000664.1:g.234183394G= GRCh37
NC_000002.10:g.233848133G= NCBI36
NG_023038.1:g.28178G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.924G= MANE Select ENSP00000375872.4:p.Val308=
ENST00000347464.9:c.435G= ENSP00000318259.6:p.Val145=
ENST00000373525.9:c.492G= ENSP00000362625.5:p.Val164=
ENST00000392017.8:c.924G= ENSP00000375872.4:p.Val308=
ENST00000392018.1:c.975G= ENSP00000375873.1:p.Val325=
ENST00000392020.8:c.867G= ENSP00000375875.4:p.Val289=
ENST00000392021.7:c.*805G= ENSP00000375876.3:n.*805G=
ENST00000419681.5:c.435G= ENSP00000398773.1:p.Val145=
ENST00000474148.5:n.1719G=
ENST00000479942.5:n.1070G=
ENST00000492298.5:n.445G=
ENST00000498620.5:n.431G=
NM_001190266.1:c.672G= NP_001177195.1:p.Val224=
NM_001190267.1:c.576G= NP_001177196.1:p.Val192=
NM_017974.3:c.867G= NP_060444.3:p.Val289=
NM_030803.6:c.924G= NP_110430.5:p.Val308=
NM_198890.2:c.435G= NP_942593.2:p.Val145=
XM_005246082.1:c.975G= XP_005246139.1:p.Val325=
XM_005246084.1:c.543G= XP_005246141.1:p.Val181=
XM_005246086.1:c.492G= XP_005246143.1:p.Val164=
XM_006712608.1:c.723G= XP_006712671.1:p.Val241=
XR_241242.1:n.1169G=
NM_001363742.1:c.975G= NP_001350671.1:p.Val325=
XM_005246084.2:c.543G= XP_005246141.1:p.Val181=
XM_005246086.2:c.492G= XP_005246143.1:p.Val164=
XM_006712608.3:c.723G= XP_006712671.1:p.Val241=
XR_001738801.2:n.1105G=
XR_241242.3:n.1156G=
NM_030803.7:c.924G= MANE Select NP_110430.5:p.Val308=
NM_001190266.2:c.672G= NP_001177195.1:p.Val224=
NM_001190267.2:c.576G= NP_001177196.1:p.Val192=
NM_001363742.2:c.975G= NP_001350671.1:p.Val325=
NM_017974.4:c.867G= NP_060444.3:p.Val289=
NM_198890.3:c.435G= NP_942593.2:p.Val145=