Canonical Allele Identifier: CA351046260
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274704C>G , CM000664.2:g.233274704C>G GRCh38
NC_000002.11:g.234183350C>G , CM000664.1:g.234183350C>G GRCh37
NC_000002.10:g.233848089C>G NCBI36
NG_023038.1:g.28134C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.880C>G MANE Select ENSP00000375872.4:p.Pro294Ala
ENST00000347464.9:c.391C>G ENSP00000318259.6:p.Pro131Ala
ENST00000373525.9:c.448C>G ENSP00000362625.5:p.Pro150Ala
ENST00000392017.8:c.880C>G ENSP00000375872.4:p.Pro294Ala
ENST00000392018.1:c.931C>G ENSP00000375873.1:p.Pro311Ala
ENST00000392020.8:c.823C>G ENSP00000375875.4:p.Pro275Ala
ENST00000392021.7:c.*761C>G ENSP00000375876.3:n.*761C>G
ENST00000419681.5:c.391C>G ENSP00000398773.1:p.Pro131Ala
ENST00000444735.5:c.499C>G ENSP00000409215.1:p.Pro167Ala
ENST00000474148.5:n.1675C>G
ENST00000479942.5:n.1026C>G
ENST00000492298.5:n.401C>G
ENST00000498620.5:n.387C>G
NM_001190266.1:c.628C>G NP_001177195.1:p.Pro210Ala
NM_001190267.1:c.532C>G NP_001177196.1:p.Pro178Ala
NM_017974.3:c.823C>G NP_060444.3:p.Pro275Ala
NM_030803.6:c.880C>G NP_110430.5:p.Pro294Ala
NM_198890.2:c.391C>G NP_942593.2:p.Pro131Ala
XM_005246082.1:c.931C>G XP_005246139.1:p.Pro311Ala
XM_005246084.1:c.499C>G XP_005246141.1:p.Pro167Ala
XM_005246086.1:c.448C>G XP_005246143.1:p.Pro150Ala
XM_006712608.1:c.679C>G XP_006712671.1:p.Pro227Ala
XR_241242.1:n.1125C>G
NM_001363742.1:c.931C>G NP_001350671.1:p.Pro311Ala
XM_005246084.2:c.499C>G XP_005246141.1:p.Pro167Ala
XM_005246086.2:c.448C>G XP_005246143.1:p.Pro150Ala
XM_006712608.3:c.679C>G XP_006712671.1:p.Pro227Ala
XR_001738801.2:n.1061C>G
XR_241242.3:n.1112C>G
NM_030803.7:c.880C>G MANE Select NP_110430.5:p.Pro294Ala
NM_001190266.2:c.628C>G NP_001177195.1:p.Pro210Ala
NM_001190267.2:c.532C>G NP_001177196.1:p.Pro178Ala
NM_001363742.2:c.931C>G NP_001350671.1:p.Pro311Ala
NM_017974.4:c.823C>G NP_060444.3:p.Pro275Ala
NM_198890.3:c.391C>G NP_942593.2:p.Pro131Ala