Canonical Allele Identifier: CA351046339
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274722A>C , CM000664.2:g.233274722A>C GRCh38
NC_000002.11:g.234183368A>C , CM000664.1:g.234183368A>C GRCh37
NC_000002.10:g.233848107A>C NCBI36
NG_023038.1:g.28152A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000392017.9:c.898A>C MANE Select ENSP00000375872.4:p.Thr300Pro
ENST00000347464.9:c.409A>C ENSP00000318259.6:p.Thr137Pro
ENST00000373525.9:c.466A>C ENSP00000362625.5:p.Thr156Pro
ENST00000392017.8:c.898A>C ENSP00000375872.4:p.Thr300Pro
ENST00000392018.1:c.949A>C ENSP00000375873.1:p.Thr317Pro
ENST00000392020.8:c.841A>C ENSP00000375875.4:p.Thr281Pro
ENST00000392021.7:c.*779A>C ENSP00000375876.3:n.*779A>C
ENST00000419681.5:c.409A>C ENSP00000398773.1:p.Thr137Pro
ENST00000444735.5:c.517A>C ENSP00000409215.1:p.Thr173Pro
ENST00000474148.5:n.1693A>C
ENST00000479942.5:n.1044A>C
ENST00000492298.5:n.419A>C
ENST00000498620.5:n.405A>C
NM_001190266.1:c.646A>C NP_001177195.1:p.Thr216Pro
NM_001190267.1:c.550A>C NP_001177196.1:p.Thr184Pro
NM_017974.3:c.841A>C NP_060444.3:p.Thr281Pro
NM_030803.6:c.898A>C NP_110430.5:p.Thr300Pro
NM_198890.2:c.409A>C NP_942593.2:p.Thr137Pro
XM_005246082.1:c.949A>C XP_005246139.1:p.Thr317Pro
XM_005246084.1:c.517A>C XP_005246141.1:p.Thr173Pro
XM_005246086.1:c.466A>C XP_005246143.1:p.Thr156Pro
XM_006712608.1:c.697A>C XP_006712671.1:p.Thr233Pro
XR_241242.1:n.1143A>C
NM_001363742.1:c.949A>C NP_001350671.1:p.Thr317Pro
XM_005246084.2:c.517A>C XP_005246141.1:p.Thr173Pro
XM_005246086.2:c.466A>C XP_005246143.1:p.Thr156Pro
XM_006712608.3:c.697A>C XP_006712671.1:p.Thr233Pro
XR_001738801.2:n.1079A>C
XR_241242.3:n.1130A>C
NM_030803.7:c.898A>C MANE Select NP_110430.5:p.Thr300Pro
NM_001190266.2:c.646A>C NP_001177195.1:p.Thr216Pro
NM_001190267.2:c.550A>C NP_001177196.1:p.Thr184Pro
NM_001363742.2:c.949A>C NP_001350671.1:p.Thr317Pro
NM_017974.4:c.841A>C NP_060444.3:p.Thr281Pro
NM_198890.3:c.409A>C NP_942593.2:p.Thr137Pro