Canonical Allele Identifier: CA351046388

Gene: ATG16L1

Linked Data

• gnomAD v4: 2-233274735-C-G
• MyVariant Identifiers: chr2:g.234183381C>G (hg19) ; chr2:g.233274735C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274735C>G , CM000664.2:g.233274735C>G	GRCh38
NC_000002.11:g.234183381C>G , CM000664.1:g.234183381C>G	GRCh37
NC_000002.10:g.233848120C>G	NCBI36
NG_023038.1:g.28165C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.911C>G MANE Select	ENSP00000375872.4:p.Ser304Cys
ENST00000347464.9:c.422C>G	ENSP00000318259.6:p.Ser141Cys
ENST00000373525.9:c.479C>G	ENSP00000362625.5:p.Ser160Cys
ENST00000392017.8:c.911C>G	ENSP00000375872.4:p.Ser304Cys
ENST00000392018.1:c.962C>G	ENSP00000375873.1:p.Ser321Cys
ENST00000392020.8:c.854C>G	ENSP00000375875.4:p.Ser285Cys
ENST00000392021.7:c.*792C>G	ENSP00000375876.3:n.*792C>G
ENST00000419681.5:c.422C>G	ENSP00000398773.1:p.Ser141Cys
ENST00000444735.5:c.530C>G	ENSP00000409215.1:p.Ser177Cys
ENST00000474148.5:n.1706C>G
ENST00000479942.5:n.1057C>G
ENST00000492298.5:n.432C>G
ENST00000498620.5:n.418C>G
NM_001190266.1:c.659C>G	NP_001177195.1:p.Ser220Cys
NM_001190267.1:c.563C>G	NP_001177196.1:p.Ser188Cys
NM_017974.3:c.854C>G	NP_060444.3:p.Ser285Cys
NM_030803.6:c.911C>G	NP_110430.5:p.Ser304Cys
NM_198890.2:c.422C>G	NP_942593.2:p.Ser141Cys
XM_005246082.1:c.962C>G	XP_005246139.1:p.Ser321Cys
XM_005246084.1:c.530C>G	XP_005246141.1:p.Ser177Cys
XM_005246086.1:c.479C>G	XP_005246143.1:p.Ser160Cys
XM_006712608.1:c.710C>G	XP_006712671.1:p.Ser237Cys
XR_241242.1:n.1156C>G
NM_001363742.1:c.962C>G	NP_001350671.1:p.Ser321Cys
XM_005246084.2:c.530C>G	XP_005246141.1:p.Ser177Cys
XM_005246086.2:c.479C>G	XP_005246143.1:p.Ser160Cys
XM_006712608.3:c.710C>G	XP_006712671.1:p.Ser237Cys
XR_001738801.2:n.1092C>G
XR_241242.3:n.1143C>G
NM_030803.7:c.911C>G MANE Select	NP_110430.5:p.Ser304Cys
NM_001190266.2:c.659C>G	NP_001177195.1:p.Ser220Cys
NM_001190267.2:c.563C>G	NP_001177196.1:p.Ser188Cys
NM_001363742.2:c.962C>G	NP_001350671.1:p.Ser321Cys
NM_017974.4:c.854C>G	NP_060444.3:p.Ser285Cys
NM_198890.3:c.422C>G	NP_942593.2:p.Ser141Cys