Canonical Allele Identifier: CA414632273

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723889T>C (hg19) ; chrX:g.129589912T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589912T>C , CM000685.2:g.129589912T>C	GRCh38
NC_000023.10:g.128723889T>C , CM000685.1:g.128723889T>C	GRCh37
NC_000023.9:g.128551570T>C	NCBI36
NG_008638.1:g.54638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2654T>C
ENST00000371113.9:c.2537T>C MANE Select	ENSP00000360154.4:p.Leu846Pro
ENST00000646010.1:c.2585T>C
ENST00000646914.1:c.1842T>C
ENST00000647245.1:c.2088T>C
ENST00000357121.5:c.2513T>C	ENSP00000349635.5:p.Leu838Pro
ENST00000371113.8:c.2537T>C	ENSP00000360154.4:p.Leu846Pro
ENST00000463271.1:n.324T>C
NM_000276.3:c.2537T>C	NP_000267.2:p.Leu846Pro
NM_001587.3:c.2513T>C	NP_001578.2:p.Leu838Pro
XM_005262422.1:c.2066T>C	XP_005262479.1:p.Leu689Pro
XM_011531342.1:c.2540T>C	XP_011529644.1:p.Leu847Pro
XM_011531343.1:c.2516T>C	XP_011529645.1:p.Leu839Pro
XM_011531344.1:c.2393T>C	XP_011529646.1:p.Leu798Pro
XM_011531345.1:c.2393T>C	XP_011529647.1:p.Leu798Pro
NM_001318784.1:c.2540T>C	NP_001305713.1:p.Leu847Pro
XM_005262422.2:c.2066T>C	XP_005262479.1:p.Leu689Pro
XM_011531344.3:c.2393T>C	XP_011529646.1:p.Leu798Pro
XM_011531345.3:c.2393T>C	XP_011529647.1:p.Leu798Pro
NM_000276.4:c.2537T>C MANE Select	NP_000267.2:p.Leu846Pro
NM_001318784.2:c.2540T>C	NP_001305713.1:p.Leu847Pro
NM_001587.4:c.2513T>C	NP_001578.2:p.Leu838Pro