Canonical Allele Identifier: CA1335666684
Gene: ATG16L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274752G= , CM000664.2:g.233274752G= GRCh38
NC_000002.11:g.234183398G= , CM000664.1:g.234183398G= GRCh37
NC_000002.10:g.233848137G= NCBI36
NG_023038.1:g.28182G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.928G= MANE Select ENSP00000375872.4:p.Val310=
ENST00000347464.9:c.439G= ENSP00000318259.6:p.Val147=
ENST00000373525.9:c.496G= ENSP00000362625.5:p.Val166=
ENST00000392017.8:c.928G= ENSP00000375872.4:p.Val310=
ENST00000392018.1:c.979G= ENSP00000375873.1:p.Val327=
ENST00000392020.8:c.871G= ENSP00000375875.4:p.Val291=
ENST00000392021.7:c.*809G= ENSP00000375876.3:n.*809G=
ENST00000419681.5:c.439G= ENSP00000398773.1:p.Val147=
ENST00000474148.5:n.1723G=
ENST00000479942.5:n.1074G=
ENST00000492298.5:n.449G=
ENST00000498620.5:n.435G=
NM_001190266.1:c.676G= NP_001177195.1:p.Val226=
NM_001190267.1:c.580G= NP_001177196.1:p.Val194=
NM_017974.3:c.871G= NP_060444.3:p.Val291=
NM_030803.6:c.928G= NP_110430.5:p.Val310=
NM_198890.2:c.439G= NP_942593.2:p.Val147=
XM_005246082.1:c.979G= XP_005246139.1:p.Val327=
XM_005246084.1:c.547G= XP_005246141.1:p.Val183=
XM_005246086.1:c.496G= XP_005246143.1:p.Val166=
XM_006712608.1:c.727G= XP_006712671.1:p.Val243=
XR_241242.1:n.1173G=
NM_001363742.1:c.979G= NP_001350671.1:p.Val327=
XM_005246084.2:c.547G= XP_005246141.1:p.Val183=
XM_005246086.2:c.496G= XP_005246143.1:p.Val166=
XM_006712608.3:c.727G= XP_006712671.1:p.Val243=
XR_001738801.2:n.1109G=
XR_241242.3:n.1160G=
NM_030803.7:c.928G= MANE Select NP_110430.5:p.Val310=
NM_001190266.2:c.676G= NP_001177195.1:p.Val226=
NM_001190267.2:c.580G= NP_001177196.1:p.Val194=
NM_001363742.2:c.979G= NP_001350671.1:p.Val327=
NM_017974.4:c.871G= NP_060444.3:p.Val291=
NM_198890.3:c.439G= NP_942593.2:p.Val147=