Canonical Allele Identifier: CA351046436

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183395A>G (hg19) ; chr2:g.233274749A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274749A>G , CM000664.2:g.233274749A>G	GRCh38
NC_000002.11:g.234183395A>G , CM000664.1:g.234183395A>G	GRCh37
NC_000002.10:g.233848134A>G	NCBI36
NG_023038.1:g.28179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.925A>G MANE Select	ENSP00000375872.4:p.Arg309Gly
ENST00000347464.9:c.436A>G	ENSP00000318259.6:p.Arg146Gly
ENST00000373525.9:c.493A>G	ENSP00000362625.5:p.Arg165Gly
ENST00000392017.8:c.925A>G	ENSP00000375872.4:p.Arg309Gly
ENST00000392018.1:c.976A>G	ENSP00000375873.1:p.Arg326Gly
ENST00000392020.8:c.868A>G	ENSP00000375875.4:p.Arg290Gly
ENST00000392021.7:c.*806A>G	ENSP00000375876.3:n.*806A>G
ENST00000419681.5:c.436A>G	ENSP00000398773.1:p.Arg146Gly
ENST00000474148.5:n.1720A>G
ENST00000479942.5:n.1071A>G
ENST00000492298.5:n.446A>G
ENST00000498620.5:n.432A>G
NM_001190266.1:c.673A>G	NP_001177195.1:p.Arg225Gly
NM_001190267.1:c.577A>G	NP_001177196.1:p.Arg193Gly
NM_017974.3:c.868A>G	NP_060444.3:p.Arg290Gly
NM_030803.6:c.925A>G	NP_110430.5:p.Arg309Gly
NM_198890.2:c.436A>G	NP_942593.2:p.Arg146Gly
XM_005246082.1:c.976A>G	XP_005246139.1:p.Arg326Gly
XM_005246084.1:c.544A>G	XP_005246141.1:p.Arg182Gly
XM_005246086.1:c.493A>G	XP_005246143.1:p.Arg165Gly
XM_006712608.1:c.724A>G	XP_006712671.1:p.Arg242Gly
XR_241242.1:n.1170A>G
NM_001363742.1:c.976A>G	NP_001350671.1:p.Arg326Gly
XM_005246084.2:c.544A>G	XP_005246141.1:p.Arg182Gly
XM_005246086.2:c.493A>G	XP_005246143.1:p.Arg165Gly
XM_006712608.3:c.724A>G	XP_006712671.1:p.Arg242Gly
XR_001738801.2:n.1106A>G
XR_241242.3:n.1157A>G
NM_030803.7:c.925A>G MANE Select	NP_110430.5:p.Arg309Gly
NM_001190266.2:c.673A>G	NP_001177195.1:p.Arg225Gly
NM_001190267.2:c.577A>G	NP_001177196.1:p.Arg193Gly
NM_001363742.2:c.976A>G	NP_001350671.1:p.Arg326Gly
NM_017974.4:c.868A>G	NP_060444.3:p.Arg290Gly
NM_198890.3:c.436A>G	NP_942593.2:p.Arg146Gly