Canonical Allele Identifier: CA351046170
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274679A>C , CM000664.2:g.233274679A>C GRCh38
NC_000002.11:g.234183325A>C , CM000664.1:g.234183325A>C GRCh37
NC_000002.10:g.233848064A>C NCBI36
NG_023038.1:g.28109A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.855A>C MANE Select ENSP00000375872.4:p.Arg285Ser
ENST00000347464.9:c.366A>C ENSP00000318259.6:p.Arg122Ser
ENST00000373525.9:c.423A>C ENSP00000362625.5:p.Arg141Ser
ENST00000392017.8:c.855A>C ENSP00000375872.4:p.Arg285Ser
ENST00000392018.1:c.906A>C ENSP00000375873.1:p.Arg302Ser
ENST00000392020.8:c.798A>C ENSP00000375875.4:p.Arg266Ser
ENST00000392021.7:c.*736A>C ENSP00000375876.3:n.*736A>C
ENST00000419681.5:c.366A>C ENSP00000398773.1:p.Arg122Ser
ENST00000444735.5:c.474A>C ENSP00000409215.1:p.Arg158Ser
ENST00000474148.5:n.1650A>C
ENST00000479942.5:n.1001A>C
ENST00000492298.5:n.376A>C
ENST00000498620.5:n.362A>C
NM_001190266.1:c.603A>C NP_001177195.1:p.Arg201Ser
NM_001190267.1:c.507A>C NP_001177196.1:p.Arg169Ser
NM_017974.3:c.798A>C NP_060444.3:p.Arg266Ser
NM_030803.6:c.855A>C NP_110430.5:p.Arg285Ser
NM_198890.2:c.366A>C NP_942593.2:p.Arg122Ser
XM_005246082.1:c.906A>C XP_005246139.1:p.Arg302Ser
XM_005246084.1:c.474A>C XP_005246141.1:p.Arg158Ser
XM_005246086.1:c.423A>C XP_005246143.1:p.Arg141Ser
XM_006712608.1:c.654A>C XP_006712671.1:p.Arg218Ser
XR_241242.1:n.1100A>C
NM_001363742.1:c.906A>C NP_001350671.1:p.Arg302Ser
XM_005246084.2:c.474A>C XP_005246141.1:p.Arg158Ser
XM_005246086.2:c.423A>C XP_005246143.1:p.Arg141Ser
XM_006712608.3:c.654A>C XP_006712671.1:p.Arg218Ser
XR_001738801.2:n.1036A>C
XR_241242.3:n.1087A>C
NM_030803.7:c.855A>C MANE Select NP_110430.5:p.Arg285Ser
NM_001190266.2:c.603A>C NP_001177195.1:p.Arg201Ser
NM_001190267.2:c.507A>C NP_001177196.1:p.Arg169Ser
NM_001363742.2:c.906A>C NP_001350671.1:p.Arg302Ser
NM_017974.4:c.798A>C NP_060444.3:p.Arg266Ser
NM_198890.3:c.366A>C NP_942593.2:p.Arg122Ser