Canonical Allele Identifier: CA1335666673
Gene: ATG16L1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.901C= MANE Select ENSP00000375872.4:p.His301=
ENST00000347464.9:c.412C= ENSP00000318259.6:p.His138=
ENST00000373525.9:c.469C= ENSP00000362625.5:p.His157=
ENST00000392017.8:c.901C= ENSP00000375872.4:p.His301=
ENST00000392018.1:c.952C= ENSP00000375873.1:p.His318=
ENST00000392020.8:c.844C= ENSP00000375875.4:p.His282=
ENST00000392021.7:c.*782C= ENSP00000375876.3:n.*782C=
ENST00000419681.5:c.412C= ENSP00000398773.1:p.His138=
ENST00000444735.5:c.520C= ENSP00000409215.1:p.His174=
ENST00000474148.5:n.1696C=
ENST00000479942.5:n.1047C=
ENST00000492298.5:n.422C=
ENST00000498620.5:n.408C=
NM_001190266.1:c.649C= NP_001177195.1:p.His217=
NM_001190267.1:c.553C= NP_001177196.1:p.His185=
NM_017974.3:c.844C= NP_060444.3:p.His282=
NM_030803.6:c.901C= NP_110430.5:p.His301=
NM_198890.2:c.412C= NP_942593.2:p.His138=
XM_005246082.1:c.952C= XP_005246139.1:p.His318=
XM_005246084.1:c.520C= XP_005246141.1:p.His174=
XM_005246086.1:c.469C= XP_005246143.1:p.His157=
XM_006712608.1:c.700C= XP_006712671.1:p.His234=
XR_241242.1:n.1146C=
NM_001363742.1:c.952C= NP_001350671.1:p.His318=
XM_005246084.2:c.520C= XP_005246141.1:p.His174=
XM_005246086.2:c.469C= XP_005246143.1:p.His157=
XM_006712608.3:c.700C= XP_006712671.1:p.His234=
XR_001738801.2:n.1082C=
XR_241242.3:n.1133C=
NM_030803.7:c.901C= MANE Select NP_110430.5:p.His301=
NM_001190266.2:c.649C= NP_001177195.1:p.His217=
NM_001190267.2:c.553C= NP_001177196.1:p.His185=
NM_001363742.2:c.952C= NP_001350671.1:p.His318=
NM_017974.4:c.844C= NP_060444.3:p.His282=
NM_198890.3:c.412C= NP_942593.2:p.His138=