Canonical Allele Identifier: CA414616587

Gene: OCRL

Linked Data

• dbSNP Id: rs2124412922
• MyVariant Identifiers: chrX:g.128703372T>A (hg19) ; chrX:g.129569395T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129569395T>A , CM000685.2:g.129569395T>A	GRCh38
NC_000023.10:g.128703372T>A , CM000685.1:g.128703372T>A	GRCh37
NC_000023.9:g.128531053T>A	NCBI36
NG_008638.1:g.34121T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1890T>A	ENSP00000510265.1:n.*1890T>A
ENST00000693473.1:c.1715T>A
ENST00000371113.9:c.1598T>A MANE Select	ENSP00000360154.4:p.Ile533Asn
ENST00000646010.1:c.1646T>A
ENST00000646914.1:c.709T>A
ENST00000647245.1:c.1249T>A
ENST00000357121.5:c.1598T>A	ENSP00000349635.5:p.Ile533Asn
ENST00000371113.8:c.1598T>A	ENSP00000360154.4:p.Ile533Asn
NM_000276.3:c.1598T>A	NP_000267.2:p.Ile533Asn
NM_001587.3:c.1598T>A	NP_001578.2:p.Ile533Asn
XM_005262422.1:c.1127T>A	XP_005262479.1:p.Ile376Asn
XM_011531342.1:c.1601T>A	XP_011529644.1:p.Ile534Asn
XM_011531343.1:c.1601T>A	XP_011529645.1:p.Ile534Asn
XM_011531344.1:c.1454T>A	XP_011529646.1:p.Ile485Asn
XM_011531345.1:c.1454T>A	XP_011529647.1:p.Ile485Asn
XM_011531346.1:c.1601T>A	XP_011529648.1:p.Ile534Asn
NM_001318784.1:c.1601T>A	NP_001305713.1:p.Ile534Asn
XM_005262422.2:c.1127T>A	XP_005262479.1:p.Ile376Asn
XM_011531344.3:c.1454T>A	XP_011529646.1:p.Ile485Asn
XM_011531345.3:c.1454T>A	XP_011529647.1:p.Ile485Asn
XM_017029554.1:c.1598T>A	XP_016885043.1:p.Ile533Asn
NM_000276.4:c.1598T>A MANE Select	NP_000267.2:p.Ile533Asn
NM_001318784.2:c.1601T>A	NP_001305713.1:p.Ile534Asn
NM_001587.4:c.1598T>A	NP_001578.2:p.Ile533Asn