Canonical Allele Identifier: CA266166

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129560648T>C , CM000685.2:g.129560648T>C	GRCh38
NC_000023.10:g.128694625T>C , CM000685.1:g.128694625T>C	GRCh37
NC_000023.9:g.128522306T>C	NCBI36
NG_008638.1:g.25374T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.821T>C MANE Select	NP_000267.2:p.Ile274Thr
ENST00000371113.9:c.821T>C MANE Select	ENSP00000360154.4:p.Ile274Thr
NM_000276.3:c.821T>C	NP_000267.2:p.Ile274Thr
NM_001318784.1:c.824T>C	NP_001305713.1:p.Ile275Thr
NM_001318784.2:c.824T>C	NP_001305713.1:p.Ile275Thr
NM_001587.3:c.821T>C	NP_001578.2:p.Ile274Thr
NM_001587.4:c.821T>C	NP_001578.2:p.Ile274Thr
ENST00000357121.5:c.821T>C	ENSP00000349635.5:p.Ile274Thr
ENST00000371113.8:c.821T>C	ENSP00000360154.4:p.Ile274Thr
ENST00000646010.1:c.869T>C
ENST00000647245.1:c.472T>C
ENST00000691455.1:c.*1113T>C	ENSP00000510265.1:n.*1113T>C
ENST00000693473.1:c.938T>C
XM_005262422.1:c.350T>C	XP_005262479.1:p.Ile117Thr
XM_005262422.2:c.350T>C	XP_005262479.1:p.Ile117Thr
XM_011531342.1:c.824T>C	XP_011529644.1:p.Ile275Thr
XM_011531343.1:c.824T>C	XP_011529645.1:p.Ile275Thr
XM_011531344.1:c.677T>C	XP_011529646.1:p.Ile226Thr
XM_011531344.3:c.677T>C	XP_011529646.1:p.Ile226Thr
XM_011531345.1:c.677T>C	XP_011529647.1:p.Ile226Thr
XM_011531345.3:c.677T>C	XP_011529647.1:p.Ile226Thr
XM_011531346.1:c.824T>C	XP_011529648.1:p.Ile275Thr
XM_017029554.1:c.821T>C	XP_016885043.1:p.Ile274Thr