Canonical Allele Identifier: CA114782
Gene: ATG16L1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1130
dbSNP Id: rs2241880

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274722A>G , CM000664.2:g.233274722A>G GRCh38
NC_000002.11:g.234183368A>G , CM000664.1:g.234183368A>G GRCh37
NC_000002.10:g.233848107A>G NCBI36
NG_023038.1:g.28152A>G

Transcript Alleles

HGVS Amino-acid change
NM_001190266.1:c.646A>G VV NP_001177195.1:p.Thr216Ala
NM_001190267.1:c.550A>G VV NP_001177196.1:p.Thr184Ala
NM_017974.3:c.841A>G VV NP_060444.3:p.Thr281Ala
NM_030803.6:c.898A>G VV NP_110430.5:p.Thr300Ala
NM_198890.2:c.409A>G VV NP_942593.2:p.Thr137Ala
XM_005246082.1:c.949A>G XP_005246139.1:p.Thr317Ala
XM_005246084.1:c.517A>G XP_005246141.1:p.Thr173Ala
XM_005246086.1:c.466A>G XP_005246143.1:p.Thr156Ala
XM_006712608.1:c.697A>G XP_006712671.1:p.Thr233Ala
XR_241242.1:n.1143A>G
NM_001363742.1:c.949A>G VV NP_001350671.1:p.Thr317Ala
XM_005246084.2:c.517A>G XP_005246141.1:p.Thr173Ala
XM_005246086.2:c.466A>G XP_005246143.1:p.Thr156Ala
XM_006712608.3:c.697A>G XP_006712671.1:p.Thr233Ala
XR_001738801.2:n.1079A>G
XR_241242.3:n.1130A>G
NM_030803.7:c.898A>G VV MANE Preferred NP_110430.5:p.Thr300Ala
ENST00000347464.9:c.409A>G ENSP00000318259.6:p.Thr137Ala
ENST00000373525.9:c.466A>G ENSP00000362625.5:p.Thr156Ala
ENST00000392017.8:c.898A>G ENSP00000375872.4:p.Thr300Ala
ENST00000392018.1:c.949A>G ENSP00000375873.1:p.Thr317Ala
ENST00000392020.8:c.841A>G ENSP00000375875.4:p.Thr281Ala
ENST00000392021.7:c.*779A>G ENSP00000375876.3:p.=
ENST00000419681.5:c.409A>G ENSP00000398773.1:p.Thr137Ala
ENST00000444735.5:c.517A>G ENSP00000409215.1:p.Thr173Ala
ENST00000474148.5:n.1693A>G
ENST00000479942.5:n.1044A>G
ENST00000492298.5:n.419A>G
ENST00000498620.5:n.405A>G