Canonical Allele Identifier: CA351046313
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274716G>C , CM000664.2:g.233274716G>C GRCh38
NC_000002.11:g.234183362G>C , CM000664.1:g.234183362G>C GRCh37
NC_000002.10:g.233848101G>C NCBI36
NG_023038.1:g.28146G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.892G>C MANE Select ENSP00000375872.4:p.Val298Leu
ENST00000347464.9:c.403G>C ENSP00000318259.6:p.Val135Leu
ENST00000373525.9:c.460G>C ENSP00000362625.5:p.Val154Leu
ENST00000392017.8:c.892G>C ENSP00000375872.4:p.Val298Leu
ENST00000392018.1:c.943G>C ENSP00000375873.1:p.Val315Leu
ENST00000392020.8:c.835G>C ENSP00000375875.4:p.Val279Leu
ENST00000392021.7:c.*773G>C ENSP00000375876.3:n.*773G>C
ENST00000419681.5:c.403G>C ENSP00000398773.1:p.Val135Leu
ENST00000444735.5:c.511G>C ENSP00000409215.1:p.Val171Leu
ENST00000474148.5:n.1687G>C
ENST00000479942.5:n.1038G>C
ENST00000492298.5:n.413G>C
ENST00000498620.5:n.399G>C
NM_001190266.1:c.640G>C NP_001177195.1:p.Val214Leu
NM_001190267.1:c.544G>C NP_001177196.1:p.Val182Leu
NM_017974.3:c.835G>C NP_060444.3:p.Val279Leu
NM_030803.6:c.892G>C NP_110430.5:p.Val298Leu
NM_198890.2:c.403G>C NP_942593.2:p.Val135Leu
XM_005246082.1:c.943G>C XP_005246139.1:p.Val315Leu
XM_005246084.1:c.511G>C XP_005246141.1:p.Val171Leu
XM_005246086.1:c.460G>C XP_005246143.1:p.Val154Leu
XM_006712608.1:c.691G>C XP_006712671.1:p.Val231Leu
XR_241242.1:n.1137G>C
NM_001363742.1:c.943G>C NP_001350671.1:p.Val315Leu
XM_005246084.2:c.511G>C XP_005246141.1:p.Val171Leu
XM_005246086.2:c.460G>C XP_005246143.1:p.Val154Leu
XM_006712608.3:c.691G>C XP_006712671.1:p.Val231Leu
XR_001738801.2:n.1073G>C
XR_241242.3:n.1124G>C
NM_030803.7:c.892G>C MANE Select NP_110430.5:p.Val298Leu
NM_001190266.2:c.640G>C NP_001177195.1:p.Val214Leu
NM_001190267.2:c.544G>C NP_001177196.1:p.Val182Leu
NM_001363742.2:c.943G>C NP_001350671.1:p.Val315Leu
NM_017974.4:c.835G>C NP_060444.3:p.Val279Leu
NM_198890.3:c.403G>C NP_942593.2:p.Val135Leu