Canonical Allele Identifier: CA414631096

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129588933G>C , CM000685.2:g.129588933G>C	GRCh38
NC_000023.10:g.128722910G>C , CM000685.1:g.128722910G>C	GRCh37
NC_000023.9:g.128550591G>C	NCBI36
NG_008638.1:g.53659G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.2389G>C MANE Select	NP_000267.2:p.Ala797Pro
ENST00000371113.9:c.2389G>C MANE Select	ENSP00000360154.4:p.Ala797Pro
NM_000276.3:c.2389G>C	NP_000267.2:p.Ala797Pro
NM_001318784.1:c.2392G>C	NP_001305713.1:p.Ala798Pro
NM_001318784.2:c.2392G>C	NP_001305713.1:p.Ala798Pro
NM_001587.3:c.2365G>C	NP_001578.2:p.Ala789Pro
NM_001587.4:c.2365G>C	NP_001578.2:p.Ala789Pro
ENST00000357121.5:c.2365G>C	ENSP00000349635.5:p.Ala789Pro
ENST00000371113.8:c.2389G>C	ENSP00000360154.4:p.Ala797Pro
ENST00000646010.1:c.2437G>C
ENST00000646914.1:c.1566G>C
ENST00000647245.1:c.1940G>C
ENST00000693473.1:c.2506G>C
XM_005262422.1:c.1918G>C	XP_005262479.1:p.Ala640Pro
XM_005262422.2:c.1918G>C	XP_005262479.1:p.Ala640Pro
XM_011531342.1:c.2392G>C	XP_011529644.1:p.Ala798Pro
XM_011531343.1:c.2368G>C	XP_011529645.1:p.Ala790Pro
XM_011531344.1:c.2245G>C	XP_011529646.1:p.Ala749Pro
XM_011531344.3:c.2245G>C	XP_011529646.1:p.Ala749Pro
XM_011531345.1:c.2245G>C	XP_011529647.1:p.Ala749Pro
XM_011531345.3:c.2245G>C	XP_011529647.1:p.Ala749Pro