Canonical Allele Identifier: CA351046159

Gene: ATG16L1

Linked Data

• gnomAD v4: 2-233274677-A-G
• MyVariant Identifiers: chr2:g.234183323A>G (hg19) ; chr2:g.233274677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274677A>G , CM000664.2:g.233274677A>G	GRCh38
NC_000002.11:g.234183323A>G , CM000664.1:g.234183323A>G	GRCh37
NC_000002.10:g.233848062A>G	NCBI36
NG_023038.1:g.28107A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.853A>G MANE Select	ENSP00000375872.4:p.Arg285Gly
ENST00000347464.9:c.364A>G	ENSP00000318259.6:p.Arg122Gly
ENST00000373525.9:c.421A>G	ENSP00000362625.5:p.Arg141Gly
ENST00000392017.8:c.853A>G	ENSP00000375872.4:p.Arg285Gly
ENST00000392018.1:c.904A>G	ENSP00000375873.1:p.Arg302Gly
ENST00000392020.8:c.796A>G	ENSP00000375875.4:p.Arg266Gly
ENST00000392021.7:c.*734A>G	ENSP00000375876.3:n.*734A>G
ENST00000419681.5:c.364A>G	ENSP00000398773.1:p.Arg122Gly
ENST00000444735.5:c.472A>G	ENSP00000409215.1:p.Arg158Gly
ENST00000474148.5:n.1648A>G
ENST00000479942.5:n.999A>G
ENST00000492298.5:n.374A>G
ENST00000498620.5:n.360A>G
NM_001190266.1:c.601A>G	NP_001177195.1:p.Arg201Gly
NM_001190267.1:c.505A>G	NP_001177196.1:p.Arg169Gly
NM_017974.3:c.796A>G	NP_060444.3:p.Arg266Gly
NM_030803.6:c.853A>G	NP_110430.5:p.Arg285Gly
NM_198890.2:c.364A>G	NP_942593.2:p.Arg122Gly
XM_005246082.1:c.904A>G	XP_005246139.1:p.Arg302Gly
XM_005246084.1:c.472A>G	XP_005246141.1:p.Arg158Gly
XM_005246086.1:c.421A>G	XP_005246143.1:p.Arg141Gly
XM_006712608.1:c.652A>G	XP_006712671.1:p.Arg218Gly
XR_241242.1:n.1098A>G
NM_001363742.1:c.904A>G	NP_001350671.1:p.Arg302Gly
XM_005246084.2:c.472A>G	XP_005246141.1:p.Arg158Gly
XM_005246086.2:c.421A>G	XP_005246143.1:p.Arg141Gly
XM_006712608.3:c.652A>G	XP_006712671.1:p.Arg218Gly
XR_001738801.2:n.1034A>G
XR_241242.3:n.1085A>G
NM_030803.7:c.853A>G MANE Select	NP_110430.5:p.Arg285Gly
NM_001190266.2:c.601A>G	NP_001177195.1:p.Arg201Gly
NM_001190267.2:c.505A>G	NP_001177196.1:p.Arg169Gly
NM_001363742.2:c.904A>G	NP_001350671.1:p.Arg302Gly
NM_017974.4:c.796A>G	NP_060444.3:p.Arg266Gly
NM_198890.3:c.364A>G	NP_942593.2:p.Arg122Gly