Canonical Allele Identifier: CA351046357
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274727T>G , CM000664.2:g.233274727T>G GRCh38
NC_000002.11:g.234183373T>G , CM000664.1:g.234183373T>G GRCh37
NC_000002.10:g.233848112T>G NCBI36
NG_023038.1:g.28157T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.903T>G MANE Select ENSP00000375872.4:p.His301Gln
ENST00000347464.9:c.414T>G ENSP00000318259.6:p.His138Gln
ENST00000373525.9:c.471T>G ENSP00000362625.5:p.His157Gln
ENST00000392017.8:c.903T>G ENSP00000375872.4:p.His301Gln
ENST00000392018.1:c.954T>G ENSP00000375873.1:p.His318Gln
ENST00000392020.8:c.846T>G ENSP00000375875.4:p.His282Gln
ENST00000392021.7:c.*784T>G ENSP00000375876.3:n.*784T>G
ENST00000419681.5:c.414T>G ENSP00000398773.1:p.His138Gln
ENST00000444735.5:c.522T>G ENSP00000409215.1:p.His174Gln
ENST00000474148.5:n.1698T>G
ENST00000479942.5:n.1049T>G
ENST00000492298.5:n.424T>G
ENST00000498620.5:n.410T>G
NM_001190266.1:c.651T>G NP_001177195.1:p.His217Gln
NM_001190267.1:c.555T>G NP_001177196.1:p.His185Gln
NM_017974.3:c.846T>G NP_060444.3:p.His282Gln
NM_030803.6:c.903T>G NP_110430.5:p.His301Gln
NM_198890.2:c.414T>G NP_942593.2:p.His138Gln
XM_005246082.1:c.954T>G XP_005246139.1:p.His318Gln
XM_005246084.1:c.522T>G XP_005246141.1:p.His174Gln
XM_005246086.1:c.471T>G XP_005246143.1:p.His157Gln
XM_006712608.1:c.702T>G XP_006712671.1:p.His234Gln
XR_241242.1:n.1148T>G
NM_001363742.1:c.954T>G NP_001350671.1:p.His318Gln
XM_005246084.2:c.522T>G XP_005246141.1:p.His174Gln
XM_005246086.2:c.471T>G XP_005246143.1:p.His157Gln
XM_006712608.3:c.702T>G XP_006712671.1:p.His234Gln
XR_001738801.2:n.1084T>G
XR_241242.3:n.1135T>G
NM_030803.7:c.903T>G MANE Select NP_110430.5:p.His301Gln
NM_001190266.2:c.651T>G NP_001177195.1:p.His217Gln
NM_001190267.2:c.555T>G NP_001177196.1:p.His185Gln
NM_001363742.2:c.954T>G NP_001350671.1:p.His318Gln
NM_017974.4:c.846T>G NP_060444.3:p.His282Gln
NM_198890.3:c.414T>G NP_942593.2:p.His138Gln