Canonical Allele Identifier: CA351046304

Gene: ATG16L1

Linked Data

• MyVariant Identifiers: chr2:g.234183360A>G (hg19) ; chr2:g.233274714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233274714A>G , CM000664.2:g.233274714A>G	GRCh38
NC_000002.11:g.234183360A>G , CM000664.1:g.234183360A>G	GRCh37
NC_000002.10:g.233848099A>G	NCBI36
NG_023038.1:g.28144A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392017.9:c.890A>G MANE Select	ENSP00000375872.4:p.Asn297Ser
ENST00000347464.9:c.401A>G	ENSP00000318259.6:p.Asn134Ser
ENST00000373525.9:c.458A>G	ENSP00000362625.5:p.Asn153Ser
ENST00000392017.8:c.890A>G	ENSP00000375872.4:p.Asn297Ser
ENST00000392018.1:c.941A>G	ENSP00000375873.1:p.Asn314Ser
ENST00000392020.8:c.833A>G	ENSP00000375875.4:p.Asn278Ser
ENST00000392021.7:c.*771A>G	ENSP00000375876.3:n.*771A>G
ENST00000419681.5:c.401A>G	ENSP00000398773.1:p.Asn134Ser
ENST00000444735.5:c.509A>G	ENSP00000409215.1:p.Asn170Ser
ENST00000474148.5:n.1685A>G
ENST00000479942.5:n.1036A>G
ENST00000492298.5:n.411A>G
ENST00000498620.5:n.397A>G
NM_001190266.1:c.638A>G	NP_001177195.1:p.Asn213Ser
NM_001190267.1:c.542A>G	NP_001177196.1:p.Asn181Ser
NM_017974.3:c.833A>G	NP_060444.3:p.Asn278Ser
NM_030803.6:c.890A>G	NP_110430.5:p.Asn297Ser
NM_198890.2:c.401A>G	NP_942593.2:p.Asn134Ser
XM_005246082.1:c.941A>G	XP_005246139.1:p.Asn314Ser
XM_005246084.1:c.509A>G	XP_005246141.1:p.Asn170Ser
XM_005246086.1:c.458A>G	XP_005246143.1:p.Asn153Ser
XM_006712608.1:c.689A>G	XP_006712671.1:p.Asn230Ser
XR_241242.1:n.1135A>G
NM_001363742.1:c.941A>G	NP_001350671.1:p.Asn314Ser
XM_005246084.2:c.509A>G	XP_005246141.1:p.Asn170Ser
XM_005246086.2:c.458A>G	XP_005246143.1:p.Asn153Ser
XM_006712608.3:c.689A>G	XP_006712671.1:p.Asn230Ser
XR_001738801.2:n.1071A>G
XR_241242.3:n.1122A>G
NM_030803.7:c.890A>G MANE Select	NP_110430.5:p.Asn297Ser
NM_001190266.2:c.638A>G	NP_001177195.1:p.Asn213Ser
NM_001190267.2:c.542A>G	NP_001177196.1:p.Asn181Ser
NM_001363742.2:c.941A>G	NP_001350671.1:p.Asn314Ser
NM_017974.4:c.833A>G	NP_060444.3:p.Asn278Ser
NM_198890.3:c.401A>G	NP_942593.2:p.Asn134Ser