Canonical Allele Identifier: CA414552674

Gene: OCRL

Linked Data

• MyVariant Identifiers: chrX:g.128696466A>G (hg19) ; chrX:g.129562489A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129562489A>G , CM000685.2:g.129562489A>G	GRCh38
NC_000023.10:g.128696466A>G , CM000685.1:g.128696466A>G	GRCh37
NC_000023.9:g.128524147A>G	NCBI36
NG_008638.1:g.27215A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691455.1:c.*1337A>G	ENSP00000510265.1:n.*1337A>G
ENST00000693473.1:c.1162A>G
ENST00000371113.9:c.1045A>G MANE Select	ENSP00000360154.4:p.Met349Val
ENST00000646010.1:c.1093A>G
ENST00000646914.1:c.156A>G
ENST00000647245.1:c.696A>G
ENST00000357121.5:c.1045A>G	ENSP00000349635.5:p.Met349Val
ENST00000371113.8:c.1045A>G	ENSP00000360154.4:p.Met349Val
NM_000276.3:c.1045A>G	NP_000267.2:p.Met349Val
NM_001587.3:c.1045A>G	NP_001578.2:p.Met349Val
XM_005262422.1:c.574A>G	XP_005262479.1:p.Met192Val
XM_011531342.1:c.1048A>G	XP_011529644.1:p.Met350Val
XM_011531343.1:c.1048A>G	XP_011529645.1:p.Met350Val
XM_011531344.1:c.901A>G	XP_011529646.1:p.Met301Val
XM_011531345.1:c.901A>G	XP_011529647.1:p.Met301Val
XM_011531346.1:c.1048A>G	XP_011529648.1:p.Met350Val
NM_001318784.1:c.1048A>G	NP_001305713.1:p.Met350Val
XM_005262422.2:c.574A>G	XP_005262479.1:p.Met192Val
XM_011531344.3:c.901A>G	XP_011529646.1:p.Met301Val
XM_011531345.3:c.901A>G	XP_011529647.1:p.Met301Val
XM_017029554.1:c.1045A>G	XP_016885043.1:p.Met349Val
NM_000276.4:c.1045A>G MANE Select	NP_000267.2:p.Met349Val
NM_001318784.2:c.1048A>G	NP_001305713.1:p.Met350Val
NM_001587.4:c.1045A>G	NP_001578.2:p.Met349Val