Canonical Allele Identifier: CA351046366
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274729C>T , CM000664.2:g.233274729C>T GRCh38
NC_000002.11:g.234183375C>T , CM000664.1:g.234183375C>T GRCh37
NC_000002.10:g.233848114C>T NCBI36
NG_023038.1:g.28159C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.905C>T MANE Select ENSP00000375872.4:p.Pro302Leu
ENST00000347464.9:c.416C>T ENSP00000318259.6:p.Pro139Leu
ENST00000373525.9:c.473C>T ENSP00000362625.5:p.Pro158Leu
ENST00000392017.8:c.905C>T ENSP00000375872.4:p.Pro302Leu
ENST00000392018.1:c.956C>T ENSP00000375873.1:p.Pro319Leu
ENST00000392020.8:c.848C>T ENSP00000375875.4:p.Pro283Leu
ENST00000392021.7:c.*786C>T ENSP00000375876.3:n.*786C>T
ENST00000419681.5:c.416C>T ENSP00000398773.1:p.Pro139Leu
ENST00000444735.5:c.524C>T ENSP00000409215.1:p.Pro175Leu
ENST00000474148.5:n.1700C>T
ENST00000479942.5:n.1051C>T
ENST00000492298.5:n.426C>T
ENST00000498620.5:n.412C>T
NM_001190266.1:c.653C>T NP_001177195.1:p.Pro218Leu
NM_001190267.1:c.557C>T NP_001177196.1:p.Pro186Leu
NM_017974.3:c.848C>T NP_060444.3:p.Pro283Leu
NM_030803.6:c.905C>T NP_110430.5:p.Pro302Leu
NM_198890.2:c.416C>T NP_942593.2:p.Pro139Leu
XM_005246082.1:c.956C>T XP_005246139.1:p.Pro319Leu
XM_005246084.1:c.524C>T XP_005246141.1:p.Pro175Leu
XM_005246086.1:c.473C>T XP_005246143.1:p.Pro158Leu
XM_006712608.1:c.704C>T XP_006712671.1:p.Pro235Leu
XR_241242.1:n.1150C>T
NM_001363742.1:c.956C>T NP_001350671.1:p.Pro319Leu
XM_005246084.2:c.524C>T XP_005246141.1:p.Pro175Leu
XM_005246086.2:c.473C>T XP_005246143.1:p.Pro158Leu
XM_006712608.3:c.704C>T XP_006712671.1:p.Pro235Leu
XR_001738801.2:n.1086C>T
XR_241242.3:n.1137C>T
NM_030803.7:c.905C>T MANE Select NP_110430.5:p.Pro302Leu
NM_001190266.2:c.653C>T NP_001177195.1:p.Pro218Leu
NM_001190267.2:c.557C>T NP_001177196.1:p.Pro186Leu
NM_001363742.2:c.956C>T NP_001350671.1:p.Pro319Leu
NM_017974.4:c.848C>T NP_060444.3:p.Pro283Leu
NM_198890.3:c.416C>T NP_942593.2:p.Pro139Leu