Canonical Allele Identifier: CA2694654638

Gene: OCRL

Linked Data

• gnomAD v4: X-129569479-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129569479A>G , CM000685.2:g.129569479A>G	GRCh38
NC_000023.10:g.128703456A>G , CM000685.1:g.128703456A>G	GRCh37
NC_000023.9:g.128531137A>G	NCBI36
NG_008638.1:g.34205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691455.1:c.*1894+80A>G	ENSP00000510265.1:n.*1894+80A>G
ENST00000693473.1:c.1719+80A>G
ENST00000371113.9:c.1602+80A>G MANE Select	ENSP00000360154.4:n.1602+80A>G
ENST00000646010.1:c.1650+80A>G
ENST00000646914.1:c.713+80A>G
ENST00000647245.1:c.1253+80A>G
ENST00000357121.5:c.1602+80A>G	ENSP00000349635.5:n.1602+80A>G
ENST00000371113.8:c.1602+80A>G	ENSP00000360154.4:n.1602+80A>G
NM_000276.3:c.1602+80A>G	NP_000267.2:n.1602+80A>G
NM_001587.3:c.1602+80A>G	NP_001578.2:n.1602+80A>G
XM_005262422.1:c.1131+80A>G	XP_005262479.1:n.1131+80A>G
XM_011531342.1:c.1605+80A>G	XP_011529644.1:n.1605+80A>G
XM_011531343.1:c.1605+80A>G	XP_011529645.1:n.1605+80A>G
XM_011531344.1:c.1458+80A>G	XP_011529646.1:n.1458+80A>G
XM_011531345.1:c.1458+80A>G	XP_011529647.1:n.1458+80A>G
XM_011531346.1:c.1605+80A>G	XP_011529648.1:n.1605+80A>G
NM_001318784.1:c.1605+80A>G	NP_001305713.1:n.1605+80A>G
XM_005262422.2:c.1131+80A>G	XP_005262479.1:n.1131+80A>G
XM_011531344.3:c.1458+80A>G	XP_011529646.1:n.1458+80A>G
XM_011531345.3:c.1458+80A>G	XP_011529647.1:n.1458+80A>G
XM_017029554.1:c.1602+80A>G	XP_016885043.1:n.1602+80A>G
NM_000276.4:c.1602+80A>G MANE Select	NP_000267.2:n.1602+80A>G
NM_001318784.2:c.1605+80A>G	NP_001305713.1:n.1605+80A>G
NM_001587.4:c.1602+80A>G	NP_001578.2:n.1602+80A>G