Canonical Allele Identifier: CA351046236
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs1241145044

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274697C>A , CM000664.2:g.233274697C>A GRCh38
NC_000002.11:g.234183343C>A , CM000664.1:g.234183343C>A GRCh37
NC_000002.10:g.233848082C>A NCBI36
NG_023038.1:g.28127C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.873C>A MANE Select ENSP00000375872.4:p.Phe291Leu
ENST00000347464.9:c.384C>A ENSP00000318259.6:p.Phe128Leu
ENST00000373525.9:c.441C>A ENSP00000362625.5:p.Phe147Leu
ENST00000392017.8:c.873C>A ENSP00000375872.4:p.Phe291Leu
ENST00000392018.1:c.924C>A ENSP00000375873.1:p.Phe308Leu
ENST00000392020.8:c.816C>A ENSP00000375875.4:p.Phe272Leu
ENST00000392021.7:c.*754C>A ENSP00000375876.3:n.*754C>A
ENST00000419681.5:c.384C>A ENSP00000398773.1:p.Phe128Leu
ENST00000444735.5:c.492C>A ENSP00000409215.1:p.Phe164Leu
ENST00000474148.5:n.1668C>A
ENST00000479942.5:n.1019C>A
ENST00000492298.5:n.394C>A
ENST00000498620.5:n.380C>A
NM_001190266.1:c.621C>A NP_001177195.1:p.Phe207Leu
NM_001190267.1:c.525C>A NP_001177196.1:p.Phe175Leu
NM_017974.3:c.816C>A NP_060444.3:p.Phe272Leu
NM_030803.6:c.873C>A NP_110430.5:p.Phe291Leu
NM_198890.2:c.384C>A NP_942593.2:p.Phe128Leu
XM_005246082.1:c.924C>A XP_005246139.1:p.Phe308Leu
XM_005246084.1:c.492C>A XP_005246141.1:p.Phe164Leu
XM_005246086.1:c.441C>A XP_005246143.1:p.Phe147Leu
XM_006712608.1:c.672C>A XP_006712671.1:p.Phe224Leu
XR_241242.1:n.1118C>A
NM_001363742.1:c.924C>A NP_001350671.1:p.Phe308Leu
XM_005246084.2:c.492C>A XP_005246141.1:p.Phe164Leu
XM_005246086.2:c.441C>A XP_005246143.1:p.Phe147Leu
XM_006712608.3:c.672C>A XP_006712671.1:p.Phe224Leu
XR_001738801.2:n.1054C>A
XR_241242.3:n.1105C>A
NM_030803.7:c.873C>A MANE Select NP_110430.5:p.Phe291Leu
NM_001190266.2:c.621C>A NP_001177195.1:p.Phe207Leu
NM_001190267.2:c.525C>A NP_001177196.1:p.Phe175Leu
NM_001363742.2:c.924C>A NP_001350671.1:p.Phe308Leu
NM_017974.4:c.816C>A NP_060444.3:p.Phe272Leu
NM_198890.3:c.384C>A NP_942593.2:p.Phe128Leu