Canonical Allele Identifier: CA518471069

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128696372G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129562395G>C , CM000685.2:g.129562395G>C	GRCh38
NC_000023.10:g.128696372G>C , CM000685.1:g.128696372G>C	GRCh37
NC_000023.9:g.128524053G>C	NCBI36
NG_008638.1:g.27121G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691455.1:c.*1243G>C	ENSP00000510265.1:n.*1243G>C
ENST00000693473.1:c.1068G>C
ENST00000371113.9:c.951G>C MANE Select	ENSP00000360154.4:p.Val317=
ENST00000646010.1:c.999G>C
ENST00000646914.1:c.62G>C
ENST00000647245.1:c.602G>C
ENST00000357121.5:c.951G>C	ENSP00000349635.5:p.Val317=
ENST00000371113.8:c.951G>C	ENSP00000360154.4:p.Val317=
NM_000276.3:c.951G>C	NP_000267.2:p.Val317=
NM_001587.3:c.951G>C	NP_001578.2:p.Val317=
XM_005262422.1:c.480G>C	XP_005262479.1:p.Val160=
XM_011531342.1:c.954G>C	XP_011529644.1:p.Val318=
XM_011531343.1:c.954G>C	XP_011529645.1:p.Val318=
XM_011531344.1:c.807G>C	XP_011529646.1:p.Val269=
XM_011531345.1:c.807G>C	XP_011529647.1:p.Val269=
XM_011531346.1:c.954G>C	XP_011529648.1:p.Val318=
NM_001318784.1:c.954G>C	NP_001305713.1:p.Val318=
XM_005262422.2:c.480G>C	XP_005262479.1:p.Val160=
XM_011531344.3:c.807G>C	XP_011529646.1:p.Val269=
XM_011531345.3:c.807G>C	XP_011529647.1:p.Val269=
XM_017029554.1:c.951G>C	XP_016885043.1:p.Val317=
NM_000276.4:c.951G>C MANE Select	NP_000267.2:p.Val317=
NM_001318784.2:c.954G>C	NP_001305713.1:p.Val318=
NM_001587.4:c.951G>C	NP_001578.2:p.Val317=