Canonical Allele Identifier: CA414629950

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129588177A>T , CM000685.2:g.129588177A>T	GRCh38
NC_000023.10:g.128722154A>T , CM000685.1:g.128722154A>T	GRCh37
NC_000023.9:g.128549835A>T	NCBI36
NG_008638.1:g.52903A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.2257-2A>T MANE Select	NP_000267.2:n.2257-2A>T
ENST00000371113.9:c.2257-2A>T MANE Select	ENSP00000360154.4:n.2257-2A>T
NM_000276.3:c.2257-2A>T	NP_000267.2:n.2257-2A>T
NM_001318784.1:c.2260-2A>T	NP_001305713.1:n.2260-2A>T
NM_001318784.2:c.2260-2A>T	NP_001305713.1:n.2260-2A>T
NM_001587.3:c.2233-2A>T	NP_001578.2:n.2233-2A>T
NM_001587.4:c.2233-2A>T	NP_001578.2:n.2233-2A>T
ENST00000357121.5:c.2233-2A>T	ENSP00000349635.5:n.2233-2A>T
ENST00000371113.8:c.2257-2A>T	ENSP00000360154.4:n.2257-2A>T
ENST00000646010.1:c.2305-2A>T
ENST00000646914.1:c.1434-2A>T
ENST00000647245.1:c.1808-2A>T
ENST00000693473.1:c.2374-2A>T
XM_005262422.1:c.1786-2A>T	XP_005262479.1:n.1786-2A>T
XM_005262422.2:c.1786-2A>T	XP_005262479.1:n.1786-2A>T
XM_011531342.1:c.2260-2A>T	XP_011529644.1:n.2260-2A>T
XM_011531343.1:c.2236-2A>T	XP_011529645.1:n.2236-2A>T
XM_011531344.1:c.2113-2A>T	XP_011529646.1:n.2113-2A>T
XM_011531344.3:c.2113-2A>T	XP_011529646.1:n.2113-2A>T
XM_011531345.1:c.2113-2A>T	XP_011529647.1:n.2113-2A>T
XM_011531345.3:c.2113-2A>T	XP_011529647.1:n.2113-2A>T
XM_011531346.1:c.2260-2A>T	XP_011529648.1:n.2260-2A>T
XM_017029554.1:c.2257-2A>T	XP_016885043.1:n.2257-2A>T