Canonical Allele Identifier: CA414632325

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128723895A>T (hg19) ; chrX:g.129589918A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589918A>T , CM000685.2:g.129589918A>T	GRCh38
NC_000023.10:g.128723895A>T , CM000685.1:g.128723895A>T	GRCh37
NC_000023.9:g.128551576A>T	NCBI36
NG_008638.1:g.54644A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2660A>T
ENST00000371113.9:c.2543A>T MANE Select	ENSP00000360154.4:p.Lys848Ile
ENST00000646010.1:c.2591A>T
ENST00000646914.1:c.1848A>T
ENST00000647245.1:c.2094A>T
ENST00000357121.5:c.2519A>T	ENSP00000349635.5:p.Lys840Ile
ENST00000371113.8:c.2543A>T	ENSP00000360154.4:p.Lys848Ile
ENST00000463271.1:n.330A>T
NM_000276.3:c.2543A>T	NP_000267.2:p.Lys848Ile
NM_001587.3:c.2519A>T	NP_001578.2:p.Lys840Ile
XM_005262422.1:c.2072A>T	XP_005262479.1:p.Lys691Ile
XM_011531342.1:c.2546A>T	XP_011529644.1:p.Lys849Ile
XM_011531343.1:c.2522A>T	XP_011529645.1:p.Lys841Ile
XM_011531344.1:c.2399A>T	XP_011529646.1:p.Lys800Ile
XM_011531345.1:c.2399A>T	XP_011529647.1:p.Lys800Ile
NM_001318784.1:c.2546A>T	NP_001305713.1:p.Lys849Ile
XM_005262422.2:c.2072A>T	XP_005262479.1:p.Lys691Ile
XM_011531344.3:c.2399A>T	XP_011529646.1:p.Lys800Ile
XM_011531345.3:c.2399A>T	XP_011529647.1:p.Lys800Ile
NM_000276.4:c.2543A>T MANE Select	NP_000267.2:p.Lys848Ile
NM_001318784.2:c.2546A>T	NP_001305713.1:p.Lys849Ile
NM_001587.4:c.2519A>T	NP_001578.2:p.Lys840Ile