Canonical Allele Identifier: CA414619850

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129576064T>G , CM000685.2:g.129576064T>G	GRCh38
NC_000023.10:g.128710041T>G , CM000685.1:g.128710041T>G	GRCh37
NC_000023.9:g.128537722T>G	NCBI36
NG_008638.1:g.40790T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.1879+2T>G MANE Select	NP_000267.2:n.1879+2T>G
ENST00000371113.9:c.1879+2T>G MANE Select	ENSP00000360154.4:n.1879+2T>G
NM_000276.3:c.1879+2T>G	NP_000267.2:n.1879+2T>G
NM_001318784.1:c.1882+2T>G	NP_001305713.1:n.1882+2T>G
NM_001318784.2:c.1882+2T>G	NP_001305713.1:n.1882+2T>G
NM_001587.3:c.1879+2T>G	NP_001578.2:n.1879+2T>G
NM_001587.4:c.1879+2T>G	NP_001578.2:n.1879+2T>G
ENST00000357121.5:c.1879+2T>G	ENSP00000349635.5:n.1879+2T>G
ENST00000371113.8:c.1879+2T>G	ENSP00000360154.4:n.1879+2T>G
ENST00000646010.1:c.1927+2T>G
ENST00000646914.1:c.1056+2T>G
ENST00000647245.1:c.1431-253T>G
ENST00000691455.1:c.*2171+2T>G	ENSP00000510265.1:n.*2171+2T>G
ENST00000693473.1:c.1996+2T>G
XM_005262422.1:c.1408+2T>G	XP_005262479.1:n.1408+2T>G
XM_005262422.2:c.1408+2T>G	XP_005262479.1:n.1408+2T>G
XM_011531342.1:c.1882+2T>G	XP_011529644.1:n.1882+2T>G
XM_011531343.1:c.1882+2T>G	XP_011529645.1:n.1882+2T>G
XM_011531344.1:c.1735+2T>G	XP_011529646.1:n.1735+2T>G
XM_011531344.3:c.1735+2T>G	XP_011529646.1:n.1735+2T>G
XM_011531345.1:c.1735+2T>G	XP_011529647.1:n.1735+2T>G
XM_011531345.3:c.1735+2T>G	XP_011529647.1:n.1735+2T>G
XM_011531346.1:c.1882+2T>G	XP_011529648.1:n.1882+2T>G
XM_017029554.1:c.1879+2T>G	XP_016885043.1:n.1879+2T>G