Canonical Allele Identifier: CA10511928

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129540805A>G , CM000685.2:g.129540805A>G	GRCh38
NC_000023.10:g.128674782A>G , CM000685.1:g.128674782A>G	GRCh37
NC_000023.9:g.128502463A>G	NCBI36
NG_008638.1:g.5531A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.101A>G MANE Select	NP_000267.2:p.Gln34Arg
ENST00000371113.9:c.101A>G MANE Select	ENSP00000360154.4:p.Gln34Arg
NM_000276.3:c.101A>G	NP_000267.2:p.Gln34Arg
NM_001318784.1:c.104A>G	NP_001305713.1:p.Gln35Arg
NM_001318784.2:c.104A>G	NP_001305713.1:p.Gln35Arg
NM_001587.3:c.101A>G	NP_001578.2:p.Gln34Arg
NM_001587.4:c.101A>G	NP_001578.2:p.Gln34Arg
ENST00000357121.5:c.101A>G	ENSP00000349635.5:p.Gln34Arg
ENST00000371113.8:c.101A>G	ENSP00000360154.4:p.Gln34Arg
ENST00000486673.1:n.91+866A>G
ENST00000646010.1:c.58A>G
ENST00000691455.1:c.39+327A>G	ENSP00000510265.1:n.39+327A>G
ENST00000693473.1:c.58A>G
XM_005262422.1:c.-353+866A>G	XP_005262479.1:n.-353+866A>G
XM_005262422.2:c.-353+866A>G	XP_005262479.1:n.-353+866A>G
XM_011531342.1:c.104A>G	XP_011529644.1:p.Gln35Arg
XM_011531343.1:c.104A>G	XP_011529645.1:p.Gln35Arg
XM_011531344.1:c.-146-4153A>G	XP_011529646.1:n.-146-4153A>G
XM_011531344.3:c.-146-4153A>G	XP_011529646.1:n.-146-4153A>G
XM_011531345.1:c.-147+866A>G	XP_011529647.1:n.-147+866A>G
XM_011531345.3:c.-147+866A>G	XP_011529647.1:n.-147+866A>G
XM_011531346.1:c.104A>G	XP_011529648.1:p.Gln35Arg
XM_017029554.1:c.101A>G	XP_016885043.1:p.Gln34Arg