Canonical Allele Identifier: CA10512166

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129565863A>G , CM000685.2:g.129565863A>G	GRCh38
NC_000023.10:g.128699840A>G , CM000685.1:g.128699840A>G	GRCh37
NC_000023.9:g.128527521A>G	NCBI36
NG_008638.1:g.30589A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.1336A>G MANE Select	NP_000267.2:p.Arg446Gly
ENST00000371113.9:c.1336A>G MANE Select	ENSP00000360154.4:p.Arg446Gly
NM_000276.3:c.1336A>G	NP_000267.2:p.Arg446Gly
NM_001318784.1:c.1339A>G	NP_001305713.1:p.Arg447Gly
NM_001318784.2:c.1339A>G	NP_001305713.1:p.Arg447Gly
NM_001587.3:c.1336A>G	NP_001578.2:p.Arg446Gly
NM_001587.4:c.1336A>G	NP_001578.2:p.Arg446Gly
ENST00000357121.5:c.1336A>G	ENSP00000349635.5:p.Arg446Gly
ENST00000371113.8:c.1336A>G	ENSP00000360154.4:p.Arg446Gly
ENST00000646010.1:c.1384A>G
ENST00000646914.1:c.447A>G
ENST00000647245.1:c.987A>G
ENST00000691455.1:c.*1628A>G	ENSP00000510265.1:n.*1628A>G
ENST00000693473.1:c.1453A>G
XM_005262422.1:c.865A>G	XP_005262479.1:p.Arg289Gly
XM_005262422.2:c.865A>G	XP_005262479.1:p.Arg289Gly
XM_011531342.1:c.1339A>G	XP_011529644.1:p.Arg447Gly
XM_011531343.1:c.1339A>G	XP_011529645.1:p.Arg447Gly
XM_011531344.1:c.1192A>G	XP_011529646.1:p.Arg398Gly
XM_011531344.3:c.1192A>G	XP_011529646.1:p.Arg398Gly
XM_011531345.1:c.1192A>G	XP_011529647.1:p.Arg398Gly
XM_011531345.3:c.1192A>G	XP_011529647.1:p.Arg398Gly
XM_011531346.1:c.1339A>G	XP_011529648.1:p.Arg447Gly
XM_017029554.1:c.1336A>G	XP_016885043.1:p.Arg446Gly