Canonical Allele Identifier: CA16608732
Gene: OCRL HGNC NCBI

Linked Data

ClinVar Variation Id: 384439
ClinVar RCV Id: RCV000434372
dbSNP Id: rs1057521952
MyVariant Identifiers: chrX:g.128703344C>T (hg19) chrX:g.129569367C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129569367C>T , CM000685.2:g.129569367C>T GRCh38
NC_000023.10:g.128703344C>T , CM000685.1:g.128703344C>T GRCh37
NC_000023.9:g.128531025C>T NCBI36
NG_008638.1:g.34093C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691455.1:c.*1862C>T ENSP00000510265.1:n.*1862C>T
ENST00000693473.1:c.1687C>T
ENST00000371113.9:c.1570C>T MANE Select ENSP00000360154.4:p.His524Tyr
ENST00000646010.1:c.1618C>T
ENST00000646914.1:c.681C>T
ENST00000647245.1:c.1221C>T
ENST00000357121.5:c.1570C>T ENSP00000349635.5:p.His524Tyr
ENST00000371113.8:c.1570C>T ENSP00000360154.4:p.His524Tyr
NM_000276.3:c.1570C>T NP_000267.2:p.His524Tyr
NM_001587.3:c.1570C>T NP_001578.2:p.His524Tyr
XM_005262422.1:c.1099C>T XP_005262479.1:p.His367Tyr
XM_011531342.1:c.1573C>T XP_011529644.1:p.His525Tyr
XM_011531343.1:c.1573C>T XP_011529645.1:p.His525Tyr
XM_011531344.1:c.1426C>T XP_011529646.1:p.His476Tyr
XM_011531345.1:c.1426C>T XP_011529647.1:p.His476Tyr
XM_011531346.1:c.1573C>T XP_011529648.1:p.His525Tyr
NM_001318784.1:c.1573C>T NP_001305713.1:p.His525Tyr
XM_005262422.2:c.1099C>T XP_005262479.1:p.His367Tyr
XM_011531344.3:c.1426C>T XP_011529646.1:p.His476Tyr
XM_011531345.3:c.1426C>T XP_011529647.1:p.His476Tyr
XM_017029554.1:c.1570C>T XP_016885043.1:p.His524Tyr
NM_000276.4:c.1570C>T MANE Select NP_000267.2:p.His524Tyr
NM_001318784.2:c.1573C>T NP_001305713.1:p.His525Tyr
NM_001587.4:c.1570C>T NP_001578.2:p.His524Tyr
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