Canonical Allele Identifier: CA10512245

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129575922G>A , CM000685.2:g.129575922G>A	GRCh38
NC_000023.10:g.128709899G>A , CM000685.1:g.128709899G>A	GRCh37
NC_000023.9:g.128537580G>A	NCBI36
NG_008638.1:g.40648G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.1739G>A MANE Select	NP_000267.2:p.Arg580Gln
ENST00000371113.9:c.1739G>A MANE Select	ENSP00000360154.4:p.Arg580Gln
NM_000276.3:c.1739G>A	NP_000267.2:p.Arg580Gln
NM_001318784.1:c.1742G>A	NP_001305713.1:p.Arg581Gln
NM_001318784.2:c.1742G>A	NP_001305713.1:p.Arg581Gln
NM_001587.3:c.1739G>A	NP_001578.2:p.Arg580Gln
NM_001587.4:c.1739G>A	NP_001578.2:p.Arg580Gln
ENST00000357121.5:c.1739G>A	ENSP00000349635.5:p.Arg580Gln
ENST00000371113.8:c.1739G>A	ENSP00000360154.4:p.Arg580Gln
ENST00000646010.1:c.1787G>A
ENST00000646914.1:c.916G>A
ENST00000647245.1:c.1430+203G>A
ENST00000691455.1:c.*2031G>A	ENSP00000510265.1:n.*2031G>A
ENST00000693473.1:c.1856G>A
XM_005262422.1:c.1268G>A	XP_005262479.1:p.Arg423Gln
XM_005262422.2:c.1268G>A	XP_005262479.1:p.Arg423Gln
XM_011531342.1:c.1742G>A	XP_011529644.1:p.Arg581Gln
XM_011531343.1:c.1742G>A	XP_011529645.1:p.Arg581Gln
XM_011531344.1:c.1595G>A	XP_011529646.1:p.Arg532Gln
XM_011531344.3:c.1595G>A	XP_011529646.1:p.Arg532Gln
XM_011531345.1:c.1595G>A	XP_011529647.1:p.Arg532Gln
XM_011531345.3:c.1595G>A	XP_011529647.1:p.Arg532Gln
XM_011531346.1:c.1742G>A	XP_011529648.1:p.Arg581Gln
XM_017029554.1:c.1739G>A	XP_016885043.1:p.Arg580Gln