Canonical Allele Identifier: CA414619132

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129575963C>T , CM000685.2:g.129575963C>T	GRCh38
NC_000023.10:g.128709940C>T , CM000685.1:g.128709940C>T	GRCh37
NC_000023.9:g.128537621C>T	NCBI36
NG_008638.1:g.40689C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.1780C>T MANE Select	NP_000267.2:p.Gln594Ter
ENST00000371113.9:c.1780C>T MANE Select	ENSP00000360154.4:p.Gln594Ter
NM_000276.3:c.1780C>T	NP_000267.2:p.Gln594Ter
NM_001318784.1:c.1783C>T	NP_001305713.1:p.Gln595Ter
NM_001318784.2:c.1783C>T	NP_001305713.1:p.Gln595Ter
NM_001587.3:c.1780C>T	NP_001578.2:p.Gln594Ter
NM_001587.4:c.1780C>T	NP_001578.2:p.Gln594Ter
ENST00000357121.5:c.1780C>T	ENSP00000349635.5:p.Gln594Ter
ENST00000371113.8:c.1780C>T	ENSP00000360154.4:p.Gln594Ter
ENST00000646010.1:c.1828C>T
ENST00000646914.1:c.957C>T
ENST00000647245.1:c.1430+244C>T
ENST00000691455.1:c.*2072C>T	ENSP00000510265.1:n.*2072C>T
ENST00000693473.1:c.1897C>T
XM_005262422.1:c.1309C>T	XP_005262479.1:p.Gln437Ter
XM_005262422.2:c.1309C>T	XP_005262479.1:p.Gln437Ter
XM_011531342.1:c.1783C>T	XP_011529644.1:p.Gln595Ter
XM_011531343.1:c.1783C>T	XP_011529645.1:p.Gln595Ter
XM_011531344.1:c.1636C>T	XP_011529646.1:p.Gln546Ter
XM_011531344.3:c.1636C>T	XP_011529646.1:p.Gln546Ter
XM_011531345.1:c.1636C>T	XP_011529647.1:p.Gln546Ter
XM_011531345.3:c.1636C>T	XP_011529647.1:p.Gln546Ter
XM_011531346.1:c.1783C>T	XP_011529648.1:p.Gln595Ter
XM_017029554.1:c.1780C>T	XP_016885043.1:p.Gln594Ter