Canonical Allele Identifier: CA2694654485

Gene: OCRL

Linked Data

• gnomAD v4: X-129569188-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129569188C>T , CM000685.2:g.129569188C>T	GRCh38
NC_000023.10:g.128703165C>T , CM000685.1:g.128703165C>T	GRCh37
NC_000023.9:g.128530846C>T	NCBI36
NG_008638.1:g.33914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1759-76C>T	ENSP00000510265.1:n.*1759-76C>T
ENST00000693473.1:c.1584-76C>T
ENST00000371113.9:c.1467-76C>T MANE Select	ENSP00000360154.4:n.1467-76C>T
ENST00000646010.1:c.1515-76C>T
ENST00000646914.1:c.578-76C>T
ENST00000647245.1:c.1118-76C>T
ENST00000357121.5:c.1467-76C>T	ENSP00000349635.5:n.1467-76C>T
ENST00000371113.8:c.1467-76C>T	ENSP00000360154.4:n.1467-76C>T
NM_000276.3:c.1467-76C>T	NP_000267.2:n.1467-76C>T
NM_001587.3:c.1467-76C>T	NP_001578.2:n.1467-76C>T
XM_005262422.1:c.996-76C>T	XP_005262479.1:n.996-76C>T
XM_011531342.1:c.1470-76C>T	XP_011529644.1:n.1470-76C>T
XM_011531343.1:c.1470-76C>T	XP_011529645.1:n.1470-76C>T
XM_011531344.1:c.1323-76C>T	XP_011529646.1:n.1323-76C>T
XM_011531345.1:c.1323-76C>T	XP_011529647.1:n.1323-76C>T
XM_011531346.1:c.1470-76C>T	XP_011529648.1:n.1470-76C>T
NM_001318784.1:c.1470-76C>T	NP_001305713.1:n.1470-76C>T
XM_005262422.2:c.996-76C>T	XP_005262479.1:n.996-76C>T
XM_011531344.3:c.1323-76C>T	XP_011529646.1:n.1323-76C>T
XM_011531345.3:c.1323-76C>T	XP_011529647.1:n.1323-76C>T
XM_017029554.1:c.1467-76C>T	XP_016885043.1:n.1467-76C>T
NM_000276.4:c.1467-76C>T MANE Select	NP_000267.2:n.1467-76C>T
NM_001318784.2:c.1470-76C>T	NP_001305713.1:n.1470-76C>T
NM_001587.4:c.1467-76C>T	NP_001578.2:n.1467-76C>T