Canonical Allele Identifier: CA414552545

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129562429A>T , CM000685.2:g.129562429A>T	GRCh38
NC_000023.10:g.128696406A>T , CM000685.1:g.128696406A>T	GRCh37
NC_000023.9:g.128524087A>T	NCBI36
NG_008638.1:g.27155A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.985A>T MANE Select	NP_000267.2:p.Arg329Ter
ENST00000371113.9:c.985A>T MANE Select	ENSP00000360154.4:p.Arg329Ter
NM_000276.3:c.985A>T	NP_000267.2:p.Arg329Ter
NM_001318784.1:c.988A>T	NP_001305713.1:p.Arg330Ter
NM_001318784.2:c.988A>T	NP_001305713.1:p.Arg330Ter
NM_001587.3:c.985A>T	NP_001578.2:p.Arg329Ter
NM_001587.4:c.985A>T	NP_001578.2:p.Arg329Ter
ENST00000357121.5:c.985A>T	ENSP00000349635.5:p.Arg329Ter
ENST00000371113.8:c.985A>T	ENSP00000360154.4:p.Arg329Ter
ENST00000646010.1:c.1033A>T
ENST00000646914.1:c.96A>T
ENST00000647245.1:c.636A>T
ENST00000691455.1:c.*1277A>T	ENSP00000510265.1:n.*1277A>T
ENST00000693473.1:c.1102A>T
XM_005262422.1:c.514A>T	XP_005262479.1:p.Arg172Ter
XM_005262422.2:c.514A>T	XP_005262479.1:p.Arg172Ter
XM_011531342.1:c.988A>T	XP_011529644.1:p.Arg330Ter
XM_011531343.1:c.988A>T	XP_011529645.1:p.Arg330Ter
XM_011531344.1:c.841A>T	XP_011529646.1:p.Arg281Ter
XM_011531344.3:c.841A>T	XP_011529646.1:p.Arg281Ter
XM_011531345.1:c.841A>T	XP_011529647.1:p.Arg281Ter
XM_011531345.3:c.841A>T	XP_011529647.1:p.Arg281Ter
XM_011531346.1:c.988A>T	XP_011529648.1:p.Arg330Ter
XM_017029554.1:c.985A>T	XP_016885043.1:p.Arg329Ter