Canonical Allele Identifier: CA351046347
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274725C>G , CM000664.2:g.233274725C>G GRCh38
NC_000002.11:g.234183371C>G , CM000664.1:g.234183371C>G GRCh37
NC_000002.10:g.233848110C>G NCBI36
NG_023038.1:g.28155C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.901C>G MANE Select ENSP00000375872.4:p.His301Asp
ENST00000347464.9:c.412C>G ENSP00000318259.6:p.His138Asp
ENST00000373525.9:c.469C>G ENSP00000362625.5:p.His157Asp
ENST00000392017.8:c.901C>G ENSP00000375872.4:p.His301Asp
ENST00000392018.1:c.952C>G ENSP00000375873.1:p.His318Asp
ENST00000392020.8:c.844C>G ENSP00000375875.4:p.His282Asp
ENST00000392021.7:c.*782C>G ENSP00000375876.3:n.*782C>G
ENST00000419681.5:c.412C>G ENSP00000398773.1:p.His138Asp
ENST00000444735.5:c.520C>G ENSP00000409215.1:p.His174Asp
ENST00000474148.5:n.1696C>G
ENST00000479942.5:n.1047C>G
ENST00000492298.5:n.422C>G
ENST00000498620.5:n.408C>G
NM_001190266.1:c.649C>G NP_001177195.1:p.His217Asp
NM_001190267.1:c.553C>G NP_001177196.1:p.His185Asp
NM_017974.3:c.844C>G NP_060444.3:p.His282Asp
NM_030803.6:c.901C>G NP_110430.5:p.His301Asp
NM_198890.2:c.412C>G NP_942593.2:p.His138Asp
XM_005246082.1:c.952C>G XP_005246139.1:p.His318Asp
XM_005246084.1:c.520C>G XP_005246141.1:p.His174Asp
XM_005246086.1:c.469C>G XP_005246143.1:p.His157Asp
XM_006712608.1:c.700C>G XP_006712671.1:p.His234Asp
XR_241242.1:n.1146C>G
NM_001363742.1:c.952C>G NP_001350671.1:p.His318Asp
XM_005246084.2:c.520C>G XP_005246141.1:p.His174Asp
XM_005246086.2:c.469C>G XP_005246143.1:p.His157Asp
XM_006712608.3:c.700C>G XP_006712671.1:p.His234Asp
XR_001738801.2:n.1082C>G
XR_241242.3:n.1133C>G
NM_030803.7:c.901C>G MANE Select NP_110430.5:p.His301Asp
NM_001190266.2:c.649C>G NP_001177195.1:p.His217Asp
NM_001190267.2:c.553C>G NP_001177196.1:p.His185Asp
NM_001363742.2:c.952C>G NP_001350671.1:p.His318Asp
NM_017974.4:c.844C>G NP_060444.3:p.His282Asp
NM_198890.3:c.412C>G NP_942593.2:p.His138Asp