Canonical Allele Identifier: CA414620152

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129576344T>A , CM000685.2:g.129576344T>A	GRCh38
NC_000023.10:g.128710321T>A , CM000685.1:g.128710321T>A	GRCh37
NC_000023.9:g.128538002T>A	NCBI36
NG_008638.1:g.41070T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.1907T>A MANE Select	NP_000267.2:p.Val636Glu
ENST00000371113.9:c.1907T>A MANE Select	ENSP00000360154.4:p.Val636Glu
NM_000276.3:c.1907T>A	NP_000267.2:p.Val636Glu
NM_001318784.1:c.1910T>A	NP_001305713.1:p.Val637Glu
NM_001318784.2:c.1910T>A	NP_001305713.1:p.Val637Glu
NM_001587.3:c.1907T>A	NP_001578.2:p.Val636Glu
NM_001587.4:c.1907T>A	NP_001578.2:p.Val636Glu
ENST00000357121.5:c.1907T>A	ENSP00000349635.5:p.Val636Glu
ENST00000371113.8:c.1907T>A	ENSP00000360154.4:p.Val636Glu
ENST00000646010.1:c.1955T>A
ENST00000646914.1:c.1084T>A
ENST00000647245.1:c.1458T>A
ENST00000691455.1:c.*2199T>A	ENSP00000510265.1:n.*2199T>A
ENST00000693473.1:c.2024T>A
XM_005262422.1:c.1436T>A	XP_005262479.1:p.Val479Glu
XM_005262422.2:c.1436T>A	XP_005262479.1:p.Val479Glu
XM_011531342.1:c.1910T>A	XP_011529644.1:p.Val637Glu
XM_011531343.1:c.1910T>A	XP_011529645.1:p.Val637Glu
XM_011531344.1:c.1763T>A	XP_011529646.1:p.Val588Glu
XM_011531344.3:c.1763T>A	XP_011529646.1:p.Val588Glu
XM_011531345.1:c.1763T>A	XP_011529647.1:p.Val588Glu
XM_011531345.3:c.1763T>A	XP_011529647.1:p.Val588Glu
XM_011531346.1:c.1910T>A	XP_011529648.1:p.Val637Glu
XM_017029554.1:c.1907T>A	XP_016885043.1:p.Val636Glu