Canonical Allele Identifier: CA351046359
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs1168559526

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274728C>T , CM000664.2:g.233274728C>T GRCh38
NC_000002.11:g.234183374C>T , CM000664.1:g.234183374C>T GRCh37
NC_000002.10:g.233848113C>T NCBI36
NG_023038.1:g.28158C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000392017.9:c.904C>T MANE Select ENSP00000375872.4:p.Pro302Ser
ENST00000347464.9:c.415C>T ENSP00000318259.6:p.Pro139Ser
ENST00000373525.9:c.472C>T ENSP00000362625.5:p.Pro158Ser
ENST00000392017.8:c.904C>T ENSP00000375872.4:p.Pro302Ser
ENST00000392018.1:c.955C>T ENSP00000375873.1:p.Pro319Ser
ENST00000392020.8:c.847C>T ENSP00000375875.4:p.Pro283Ser
ENST00000392021.7:c.*785C>T ENSP00000375876.3:n.*785C>T
ENST00000419681.5:c.415C>T ENSP00000398773.1:p.Pro139Ser
ENST00000444735.5:c.523C>T ENSP00000409215.1:p.Pro175Ser
ENST00000474148.5:n.1699C>T
ENST00000479942.5:n.1050C>T
ENST00000492298.5:n.425C>T
ENST00000498620.5:n.411C>T
NM_001190266.1:c.652C>T NP_001177195.1:p.Pro218Ser
NM_001190267.1:c.556C>T NP_001177196.1:p.Pro186Ser
NM_017974.3:c.847C>T NP_060444.3:p.Pro283Ser
NM_030803.6:c.904C>T NP_110430.5:p.Pro302Ser
NM_198890.2:c.415C>T NP_942593.2:p.Pro139Ser
XM_005246082.1:c.955C>T XP_005246139.1:p.Pro319Ser
XM_005246084.1:c.523C>T XP_005246141.1:p.Pro175Ser
XM_005246086.1:c.472C>T XP_005246143.1:p.Pro158Ser
XM_006712608.1:c.703C>T XP_006712671.1:p.Pro235Ser
XR_241242.1:n.1149C>T
NM_001363742.1:c.955C>T NP_001350671.1:p.Pro319Ser
XM_005246084.2:c.523C>T XP_005246141.1:p.Pro175Ser
XM_005246086.2:c.472C>T XP_005246143.1:p.Pro158Ser
XM_006712608.3:c.703C>T XP_006712671.1:p.Pro235Ser
XR_001738801.2:n.1085C>T
XR_241242.3:n.1136C>T
NM_030803.7:c.904C>T MANE Select NP_110430.5:p.Pro302Ser
NM_001190266.2:c.652C>T NP_001177195.1:p.Pro218Ser
NM_001190267.2:c.556C>T NP_001177196.1:p.Pro186Ser
NM_001363742.2:c.955C>T NP_001350671.1:p.Pro319Ser
NM_017974.4:c.847C>T NP_060444.3:p.Pro283Ser
NM_198890.3:c.415C>T NP_942593.2:p.Pro139Ser