Canonical Allele Identifier: CA431820479

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234173556G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233264910G>A , CM000664.2:g.233264910G>A	GRCh38
NC_000002.11:g.234173556G>A , CM000664.1:g.234173556G>A	GRCh37
NC_000002.10:g.233838295G>A	NCBI36
NG_023038.1:g.18340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.408G>A MANE Select	ENSP00000375872.4:p.Gln136=
ENST00000347464.9:c.210-5092G>A	ENSP00000318259.6:n.210-5092G>A
ENST00000373525.9:c.210-5092G>A	ENSP00000362625.5:n.210-5092G>A
ENST00000392017.8:c.408G>A	ENSP00000375872.4:p.Gln136=
ENST00000392018.1:c.408G>A	ENSP00000375873.1:p.Gln136=
ENST00000392020.8:c.408G>A	ENSP00000375875.4:p.Gln136=
ENST00000392021.7:c.*289G>A	ENSP00000375876.3:n.*289G>A
ENST00000417017.5:c.389+845G>A	ENSP00000412046.1:n.389+845G>A
ENST00000419681.5:c.210-5092G>A	ENSP00000398773.1:n.210-5092G>A
ENST00000431917.5:c.156G>A	ENSP00000397512.1:p.Gln52=
ENST00000444735.5:c.210-5092G>A	ENSP00000409215.1:n.210-5092G>A
ENST00000474148.5:n.535G>A
ENST00000479942.5:n.554G>A
NM_001190266.1:c.156G>A	NP_001177195.1:p.Gln52=
NM_001190267.1:c.60G>A	NP_001177196.1:p.Gln20=
NM_017974.3:c.408G>A	NP_060444.3:p.Gln136=
NM_030803.6:c.408G>A	NP_110430.5:p.Gln136=
NM_198890.2:c.210-5092G>A	NP_942593.2:n.210-5092G>A
XM_005246082.1:c.408G>A	XP_005246139.1:p.Gln136=
XM_005246084.1:c.210-5092G>A	XP_005246141.1:n.210-5092G>A
XM_005246086.1:c.210-5092G>A	XP_005246143.1:n.210-5092G>A
XM_006712608.1:c.389+845G>A	XP_006712671.1:n.389+845G>A
XR_241242.1:n.602G>A
NM_001363742.1:c.408G>A	NP_001350671.1:p.Gln136=
XM_005246084.2:c.210-5092G>A	XP_005246141.1:n.210-5092G>A
XM_005246086.2:c.210-5092G>A	XP_005246143.1:n.210-5092G>A
XM_006712608.3:c.389+845G>A	XP_006712671.1:n.389+845G>A
XR_001738801.2:n.589G>A
XR_241242.3:n.589G>A
NM_030803.7:c.408G>A MANE Select	NP_110430.5:p.Gln136=
NM_001190266.2:c.156G>A	NP_001177195.1:p.Gln52=
NM_001190267.2:c.60G>A	NP_001177196.1:p.Gln20=
NM_001363742.2:c.408G>A	NP_001350671.1:p.Gln136=
NM_017974.4:c.408G>A	NP_060444.3:p.Gln136=
NM_198890.3:c.210-5092G>A	NP_942593.2:n.210-5092G>A