Canonical Allele Identifier: CA414551026

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129557437T>G , CM000685.2:g.129557437T>G	GRCh38
NC_000023.10:g.128691414T>G , CM000685.1:g.128691414T>G	GRCh37
NC_000023.9:g.128519095T>G	NCBI36
NG_008638.1:g.22163T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.349+2T>G MANE Select	NP_000267.2:n.349+2T>G
ENST00000371113.9:c.349+2T>G MANE Select	ENSP00000360154.4:n.349+2T>G
NM_000276.3:c.349+2T>G	NP_000267.2:n.349+2T>G
NM_001318784.1:c.352+2T>G	NP_001305713.1:n.352+2T>G
NM_001318784.2:c.352+2T>G	NP_001305713.1:n.352+2T>G
NM_001587.3:c.349+2T>G	NP_001578.2:n.349+2T>G
NM_001587.4:c.349+2T>G	NP_001578.2:n.349+2T>G
ENST00000357121.5:c.349+2T>G	ENSP00000349635.5:n.349+2T>G
ENST00000371113.8:c.349+2T>G	ENSP00000360154.4:n.349+2T>G
ENST00000486673.1:n.591+2T>G
ENST00000646010.1:c.397+2T>G
ENST00000689093.1:c.1426+2T>G
ENST00000691455.1:c.*641+2T>G	ENSP00000510265.1:n.*641+2T>G
ENST00000693473.1:c.466+2T>G
XM_005262422.1:c.-123+2T>G	XP_005262479.1:n.-123+2T>G
XM_005262422.2:c.-123+2T>G	XP_005262479.1:n.-123+2T>G
XM_011531342.1:c.352+2T>G	XP_011529644.1:n.352+2T>G
XM_011531343.1:c.352+2T>G	XP_011529645.1:n.352+2T>G
XM_011531344.1:c.205+2T>G	XP_011529646.1:n.205+2T>G
XM_011531344.3:c.205+2T>G	XP_011529646.1:n.205+2T>G
XM_011531345.1:c.205+2T>G	XP_011529647.1:n.205+2T>G
XM_011531345.3:c.205+2T>G	XP_011529647.1:n.205+2T>G
XM_011531346.1:c.352+2T>G	XP_011529648.1:n.352+2T>G
XM_017029554.1:c.349+2T>G	XP_016885043.1:n.349+2T>G