Canonical Allele Identifier: CA414630257

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129588204T>G , CM000685.2:g.129588204T>G	GRCh38
NC_000023.10:g.128722181T>G , CM000685.1:g.128722181T>G	GRCh37
NC_000023.9:g.128549862T>G	NCBI36
NG_008638.1:g.52930T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.2282T>G MANE Select	NP_000267.2:p.Met761Arg
ENST00000371113.9:c.2282T>G MANE Select	ENSP00000360154.4:p.Met761Arg
NM_000276.3:c.2282T>G	NP_000267.2:p.Met761Arg
NM_001318784.1:c.2285T>G	NP_001305713.1:p.Met762Arg
NM_001318784.2:c.2285T>G	NP_001305713.1:p.Met762Arg
NM_001587.3:c.2258T>G	NP_001578.2:p.Met753Arg
NM_001587.4:c.2258T>G	NP_001578.2:p.Met753Arg
ENST00000357121.5:c.2258T>G	ENSP00000349635.5:p.Met753Arg
ENST00000371113.8:c.2282T>G	ENSP00000360154.4:p.Met761Arg
ENST00000646010.1:c.2330T>G
ENST00000646914.1:c.1459T>G
ENST00000647245.1:c.1833T>G
ENST00000693473.1:c.2399T>G
XM_005262422.1:c.1811T>G	XP_005262479.1:p.Met604Arg
XM_005262422.2:c.1811T>G	XP_005262479.1:p.Met604Arg
XM_011531342.1:c.2285T>G	XP_011529644.1:p.Met762Arg
XM_011531343.1:c.2261T>G	XP_011529645.1:p.Met754Arg
XM_011531344.1:c.2138T>G	XP_011529646.1:p.Met713Arg
XM_011531344.3:c.2138T>G	XP_011529646.1:p.Met713Arg
XM_011531345.1:c.2138T>G	XP_011529647.1:p.Met713Arg
XM_011531345.3:c.2138T>G	XP_011529647.1:p.Met713Arg
XM_011531346.1:c.2285T>G	XP_011529648.1:p.Met762Arg
XM_017029554.1:c.2282T>G	XP_016885043.1:p.Met761Arg