Canonical Allele Identifier: CA414631814

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589854C>T , CM000685.2:g.129589854C>T	GRCh38
NC_000023.10:g.128723831C>T , CM000685.1:g.128723831C>T	GRCh37
NC_000023.9:g.128551512C>T	NCBI36
NG_008638.1:g.54580C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.2479C>T MANE Select	NP_000267.2:p.Gln827Ter
ENST00000371113.9:c.2479C>T MANE Select	ENSP00000360154.4:p.Gln827Ter
NM_000276.3:c.2479C>T	NP_000267.2:p.Gln827Ter
NM_001318784.1:c.2482C>T	NP_001305713.1:p.Gln828Ter
NM_001318784.2:c.2482C>T	NP_001305713.1:p.Gln828Ter
NM_001587.3:c.2455C>T	NP_001578.2:p.Gln819Ter
NM_001587.4:c.2455C>T	NP_001578.2:p.Gln819Ter
ENST00000357121.5:c.2455C>T	ENSP00000349635.5:p.Gln819Ter
ENST00000371113.8:c.2479C>T	ENSP00000360154.4:p.Gln827Ter
ENST00000463271.1:n.266C>T
ENST00000646010.1:c.2527C>T
ENST00000646914.1:c.1784C>T
ENST00000647245.1:c.2030C>T
ENST00000693473.1:c.2596C>T
XM_005262422.1:c.2008C>T	XP_005262479.1:p.Gln670Ter
XM_005262422.2:c.2008C>T	XP_005262479.1:p.Gln670Ter
XM_011531342.1:c.2482C>T	XP_011529644.1:p.Gln828Ter
XM_011531343.1:c.2458C>T	XP_011529645.1:p.Gln820Ter
XM_011531344.1:c.2335C>T	XP_011529646.1:p.Gln779Ter
XM_011531344.3:c.2335C>T	XP_011529646.1:p.Gln779Ter
XM_011531345.1:c.2335C>T	XP_011529647.1:p.Gln779Ter
XM_011531345.3:c.2335C>T	XP_011529647.1:p.Gln779Ter