Canonical Allele Identifier: CA414616555

Gene: OCRL

Linked Data

• ClinVar Variation Id: 1407400
• ClinVar RCV Id: RCV001918423
• dbSNP Id: rs1219583539
• gnomAD v2: X-128703359-G-A
• gnomAD v3: X-129569382-G-A
• gnomAD v4: X-129569382-G-A
• COSMIC: COSM5800179
• MyVariant Identifiers: chrX:g.128703359G>A (hg19) ; chrX:g.129569382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129569382G>A , CM000685.2:g.129569382G>A	GRCh38
NC_000023.10:g.128703359G>A , CM000685.1:g.128703359G>A	GRCh37
NC_000023.9:g.128531040G>A	NCBI36
NG_008638.1:g.34108G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1877G>A	ENSP00000510265.1:n.*1877G>A
ENST00000693473.1:c.1702G>A
ENST00000371113.9:c.1585G>A MANE Select	ENSP00000360154.4:p.Ala529Thr
ENST00000646010.1:c.1633G>A
ENST00000646914.1:c.696G>A
ENST00000647245.1:c.1236G>A
ENST00000357121.5:c.1585G>A	ENSP00000349635.5:p.Ala529Thr
ENST00000371113.8:c.1585G>A	ENSP00000360154.4:p.Ala529Thr
NM_000276.3:c.1585G>A	NP_000267.2:p.Ala529Thr
NM_001587.3:c.1585G>A	NP_001578.2:p.Ala529Thr
XM_005262422.1:c.1114G>A	XP_005262479.1:p.Ala372Thr
XM_011531342.1:c.1588G>A	XP_011529644.1:p.Ala530Thr
XM_011531343.1:c.1588G>A	XP_011529645.1:p.Ala530Thr
XM_011531344.1:c.1441G>A	XP_011529646.1:p.Ala481Thr
XM_011531345.1:c.1441G>A	XP_011529647.1:p.Ala481Thr
XM_011531346.1:c.1588G>A	XP_011529648.1:p.Ala530Thr
NM_001318784.1:c.1588G>A	NP_001305713.1:p.Ala530Thr
XM_005262422.2:c.1114G>A	XP_005262479.1:p.Ala372Thr
XM_011531344.3:c.1441G>A	XP_011529646.1:p.Ala481Thr
XM_011531345.3:c.1441G>A	XP_011529647.1:p.Ala481Thr
XM_017029554.1:c.1585G>A	XP_016885043.1:p.Ala529Thr
NM_000276.4:c.1585G>A MANE Select	NP_000267.2:p.Ala529Thr
NM_001318784.2:c.1588G>A	NP_001305713.1:p.Ala530Thr
NM_001587.4:c.1585G>A	NP_001578.2:p.Ala529Thr