Canonical Allele Identifier: CA351046342
Gene: ATG16L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274723C>G , CM000664.2:g.233274723C>G GRCh38
NC_000002.11:g.234183369C>G , CM000664.1:g.234183369C>G GRCh37
NC_000002.10:g.233848108C>G NCBI36
NG_023038.1:g.28153C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.899C>G MANE Select ENSP00000375872.4:p.Thr300Ser
ENST00000347464.9:c.410C>G ENSP00000318259.6:p.Thr137Ser
ENST00000373525.9:c.467C>G ENSP00000362625.5:p.Thr156Ser
ENST00000392017.8:c.899C>G ENSP00000375872.4:p.Thr300Ser
ENST00000392018.1:c.950C>G ENSP00000375873.1:p.Thr317Ser
ENST00000392020.8:c.842C>G ENSP00000375875.4:p.Thr281Ser
ENST00000392021.7:c.*780C>G ENSP00000375876.3:n.*780C>G
ENST00000419681.5:c.410C>G ENSP00000398773.1:p.Thr137Ser
ENST00000444735.5:c.518C>G ENSP00000409215.1:p.Thr173Ser
ENST00000474148.5:n.1694C>G
ENST00000479942.5:n.1045C>G
ENST00000492298.5:n.420C>G
ENST00000498620.5:n.406C>G
NM_001190266.1:c.647C>G NP_001177195.1:p.Thr216Ser
NM_001190267.1:c.551C>G NP_001177196.1:p.Thr184Ser
NM_017974.3:c.842C>G NP_060444.3:p.Thr281Ser
NM_030803.6:c.899C>G NP_110430.5:p.Thr300Ser
NM_198890.2:c.410C>G NP_942593.2:p.Thr137Ser
XM_005246082.1:c.950C>G XP_005246139.1:p.Thr317Ser
XM_005246084.1:c.518C>G XP_005246141.1:p.Thr173Ser
XM_005246086.1:c.467C>G XP_005246143.1:p.Thr156Ser
XM_006712608.1:c.698C>G XP_006712671.1:p.Thr233Ser
XR_241242.1:n.1144C>G
NM_001363742.1:c.950C>G NP_001350671.1:p.Thr317Ser
XM_005246084.2:c.518C>G XP_005246141.1:p.Thr173Ser
XM_005246086.2:c.467C>G XP_005246143.1:p.Thr156Ser
XM_006712608.3:c.698C>G XP_006712671.1:p.Thr233Ser
XR_001738801.2:n.1080C>G
XR_241242.3:n.1131C>G
NM_030803.7:c.899C>G MANE Select NP_110430.5:p.Thr300Ser
NM_001190266.2:c.647C>G NP_001177195.1:p.Thr216Ser
NM_001190267.2:c.551C>G NP_001177196.1:p.Thr184Ser
NM_001363742.2:c.950C>G NP_001350671.1:p.Thr317Ser
NM_017974.4:c.842C>G NP_060444.3:p.Thr281Ser
NM_198890.3:c.410C>G NP_942593.2:p.Thr137Ser