Canonical Allele Identifier: CA10603403
Gene: OCRL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.129589843A>G , CM000685.2:g.129589843A>G GRCh38
NC_000023.10:g.128723820A>G , CM000685.1:g.128723820A>G GRCh37
NC_000023.9:g.128551501A>G NCBI36
NG_008638.1:g.54569A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000693473.1:c.2587-2A>G
ENST00000371113.9:c.2470-2A>G MANE Select ENSP00000360154.4:n.2470-2A>G
ENST00000646010.1:c.2518-2A>G
ENST00000646914.1:c.1775-2A>G
ENST00000647245.1:c.2021-2A>G
ENST00000357121.5:c.2446-2A>G ENSP00000349635.5:n.2446-2A>G
ENST00000371113.8:c.2470-2A>G ENSP00000360154.4:n.2470-2A>G
ENST00000463271.1:n.255A>G
NM_000276.3:c.2470-2A>G NP_000267.2:n.2470-2A>G
NM_001587.3:c.2446-2A>G NP_001578.2:n.2446-2A>G
XM_005262422.1:c.1999-2A>G XP_005262479.1:n.1999-2A>G
XM_011531342.1:c.2473-2A>G XP_011529644.1:n.2473-2A>G
XM_011531343.1:c.2449-2A>G XP_011529645.1:n.2449-2A>G
XM_011531344.1:c.2326-2A>G XP_011529646.1:n.2326-2A>G
XM_011531345.1:c.2326-2A>G XP_011529647.1:n.2326-2A>G
NM_001318784.1:c.2473-2A>G NP_001305713.1:n.2473-2A>G
XM_005262422.2:c.1999-2A>G XP_005262479.1:n.1999-2A>G
XM_011531344.3:c.2326-2A>G XP_011529646.1:n.2326-2A>G
XM_011531345.3:c.2326-2A>G XP_011529647.1:n.2326-2A>G
NM_000276.4:c.2470-2A>G MANE Select NP_000267.2:n.2470-2A>G
NM_001318784.2:c.2473-2A>G NP_001305713.1:n.2473-2A>G
NM_001587.4:c.2446-2A>G NP_001578.2:n.2446-2A>G