Canonical Allele Identifier: CA431820823

Gene: ATG16L1

Linked Data

• gnomAD v4: 2-233274724-T-G
• MyVariant Identifiers: chr2:g.234183370T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274724T>G , CM000664.2:g.233274724T>G	GRCh38
NC_000002.11:g.234183370T>G , CM000664.1:g.234183370T>G	GRCh37
NC_000002.10:g.233848109T>G	NCBI36
NG_023038.1:g.28154T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.900T>G MANE Select	ENSP00000375872.4:p.Thr300=
ENST00000347464.9:c.411T>G	ENSP00000318259.6:p.Thr137=
ENST00000373525.9:c.468T>G	ENSP00000362625.5:p.Thr156=
ENST00000392017.8:c.900T>G	ENSP00000375872.4:p.Thr300=
ENST00000392018.1:c.951T>G	ENSP00000375873.1:p.Thr317=
ENST00000392020.8:c.843T>G	ENSP00000375875.4:p.Thr281=
ENST00000392021.7:c.*781T>G	ENSP00000375876.3:n.*781T>G
ENST00000419681.5:c.411T>G	ENSP00000398773.1:p.Thr137=
ENST00000444735.5:c.519T>G	ENSP00000409215.1:p.Thr173=
ENST00000474148.5:n.1695T>G
ENST00000479942.5:n.1046T>G
ENST00000492298.5:n.421T>G
ENST00000498620.5:n.407T>G
NM_001190266.1:c.648T>G	NP_001177195.1:p.Thr216=
NM_001190267.1:c.552T>G	NP_001177196.1:p.Thr184=
NM_017974.3:c.843T>G	NP_060444.3:p.Thr281=
NM_030803.6:c.900T>G	NP_110430.5:p.Thr300=
NM_198890.2:c.411T>G	NP_942593.2:p.Thr137=
XM_005246082.1:c.951T>G	XP_005246139.1:p.Thr317=
XM_005246084.1:c.519T>G	XP_005246141.1:p.Thr173=
XM_005246086.1:c.468T>G	XP_005246143.1:p.Thr156=
XM_006712608.1:c.699T>G	XP_006712671.1:p.Thr233=
XR_241242.1:n.1145T>G
NM_001363742.1:c.951T>G	NP_001350671.1:p.Thr317=
XM_005246084.2:c.519T>G	XP_005246141.1:p.Thr173=
XM_005246086.2:c.468T>G	XP_005246143.1:p.Thr156=
XM_006712608.3:c.699T>G	XP_006712671.1:p.Thr233=
XR_001738801.2:n.1081T>G
XR_241242.3:n.1132T>G
NM_030803.7:c.900T>G MANE Select	NP_110430.5:p.Thr300=
NM_001190266.2:c.648T>G	NP_001177195.1:p.Thr216=
NM_001190267.2:c.552T>G	NP_001177196.1:p.Thr184=
NM_001363742.2:c.951T>G	NP_001350671.1:p.Thr317=
NM_017974.4:c.843T>G	NP_060444.3:p.Thr281=
NM_198890.3:c.411T>G	NP_942593.2:p.Thr137=