Canonical Allele Identifier: CA351046333

Gene: ATG16L1

Linked Data

• dbSNP Id: rs1193226629
• gnomAD v2: 2-234183367-T-A
• gnomAD v4: 2-233274721-T-A
• MyVariant Identifiers: chr2:g.234183367T>A (hg19) ; chr2:g.233274721T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274721T>A , CM000664.2:g.233274721T>A	GRCh38
NC_000002.11:g.234183367T>A , CM000664.1:g.234183367T>A	GRCh37
NC_000002.10:g.233848106T>A	NCBI36
NG_023038.1:g.28151T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.897T>A MANE Select	ENSP00000375872.4:p.Asp299Glu
ENST00000347464.9:c.408T>A	ENSP00000318259.6:p.Asp136Glu
ENST00000373525.9:c.465T>A	ENSP00000362625.5:p.Asp155Glu
ENST00000392017.8:c.897T>A	ENSP00000375872.4:p.Asp299Glu
ENST00000392018.1:c.948T>A	ENSP00000375873.1:p.Asp316Glu
ENST00000392020.8:c.840T>A	ENSP00000375875.4:p.Asp280Glu
ENST00000392021.7:c.*778T>A	ENSP00000375876.3:n.*778T>A
ENST00000419681.5:c.408T>A	ENSP00000398773.1:p.Asp136Glu
ENST00000444735.5:c.516T>A	ENSP00000409215.1:p.Asp172Glu
ENST00000474148.5:n.1692T>A
ENST00000479942.5:n.1043T>A
ENST00000492298.5:n.418T>A
ENST00000498620.5:n.404T>A
NM_001190266.1:c.645T>A	NP_001177195.1:p.Asp215Glu
NM_001190267.1:c.549T>A	NP_001177196.1:p.Asp183Glu
NM_017974.3:c.840T>A	NP_060444.3:p.Asp280Glu
NM_030803.6:c.897T>A	NP_110430.5:p.Asp299Glu
NM_198890.2:c.408T>A	NP_942593.2:p.Asp136Glu
XM_005246082.1:c.948T>A	XP_005246139.1:p.Asp316Glu
XM_005246084.1:c.516T>A	XP_005246141.1:p.Asp172Glu
XM_005246086.1:c.465T>A	XP_005246143.1:p.Asp155Glu
XM_006712608.1:c.696T>A	XP_006712671.1:p.Asp232Glu
XR_241242.1:n.1142T>A
NM_001363742.1:c.948T>A	NP_001350671.1:p.Asp316Glu
XM_005246084.2:c.516T>A	XP_005246141.1:p.Asp172Glu
XM_005246086.2:c.465T>A	XP_005246143.1:p.Asp155Glu
XM_006712608.3:c.696T>A	XP_006712671.1:p.Asp232Glu
XR_001738801.2:n.1078T>A
XR_241242.3:n.1129T>A
NM_030803.7:c.897T>A MANE Select	NP_110430.5:p.Asp299Glu
NM_001190266.2:c.645T>A	NP_001177195.1:p.Asp215Glu
NM_001190267.2:c.549T>A	NP_001177196.1:p.Asp183Glu
NM_001363742.2:c.948T>A	NP_001350671.1:p.Asp316Glu
NM_017974.4:c.840T>A	NP_060444.3:p.Asp280Glu
NM_198890.3:c.408T>A	NP_942593.2:p.Asp136Glu