Canonical Allele Identifier: CA351046346
Gene: ATG16L1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.901C>A MANE Select ENSP00000375872.4:p.His301Asn
ENST00000347464.9:c.412C>A ENSP00000318259.6:p.His138Asn
ENST00000373525.9:c.469C>A ENSP00000362625.5:p.His157Asn
ENST00000392017.8:c.901C>A ENSP00000375872.4:p.His301Asn
ENST00000392018.1:c.952C>A ENSP00000375873.1:p.His318Asn
ENST00000392020.8:c.844C>A ENSP00000375875.4:p.His282Asn
ENST00000392021.7:c.*782C>A ENSP00000375876.3:n.*782C>A
ENST00000419681.5:c.412C>A ENSP00000398773.1:p.His138Asn
ENST00000444735.5:c.520C>A ENSP00000409215.1:p.His174Asn
ENST00000474148.5:n.1696C>A
ENST00000479942.5:n.1047C>A
ENST00000492298.5:n.422C>A
ENST00000498620.5:n.408C>A
NM_001190266.1:c.649C>A NP_001177195.1:p.His217Asn
NM_001190267.1:c.553C>A NP_001177196.1:p.His185Asn
NM_017974.3:c.844C>A NP_060444.3:p.His282Asn
NM_030803.6:c.901C>A NP_110430.5:p.His301Asn
NM_198890.2:c.412C>A NP_942593.2:p.His138Asn
XM_005246082.1:c.952C>A XP_005246139.1:p.His318Asn
XM_005246084.1:c.520C>A XP_005246141.1:p.His174Asn
XM_005246086.1:c.469C>A XP_005246143.1:p.His157Asn
XM_006712608.1:c.700C>A XP_006712671.1:p.His234Asn
XR_241242.1:n.1146C>A
NM_001363742.1:c.952C>A NP_001350671.1:p.His318Asn
XM_005246084.2:c.520C>A XP_005246141.1:p.His174Asn
XM_005246086.2:c.469C>A XP_005246143.1:p.His157Asn
XM_006712608.3:c.700C>A XP_006712671.1:p.His234Asn
XR_001738801.2:n.1082C>A
XR_241242.3:n.1133C>A
NM_030803.7:c.901C>A MANE Select NP_110430.5:p.His301Asn
NM_001190266.2:c.649C>A NP_001177195.1:p.His217Asn
NM_001190267.2:c.553C>A NP_001177196.1:p.His185Asn
NM_001363742.2:c.952C>A NP_001350671.1:p.His318Asn
NM_017974.4:c.844C>A NP_060444.3:p.His282Asn
NM_198890.3:c.412C>A NP_942593.2:p.His138Asn