Canonical Allele Identifier: CA10512331

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129587107G>T , CM000685.2:g.129587107G>T	GRCh38
NC_000023.10:g.128721084G>T , CM000685.1:g.128721084G>T	GRCh37
NC_000023.9:g.128548765G>T	NCBI36
NG_008638.1:g.51833G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.2245G>T MANE Select	NP_000267.2:p.Ala749Ser
ENST00000371113.9:c.2245G>T MANE Select	ENSP00000360154.4:p.Ala749Ser
NM_000276.3:c.2245G>T	NP_000267.2:p.Ala749Ser
NM_001318784.1:c.2248G>T	NP_001305713.1:p.Ala750Ser
NM_001318784.2:c.2248G>T	NP_001305713.1:p.Ala750Ser
NM_001587.3:c.2221G>T	NP_001578.2:p.Ala741Ser
NM_001587.4:c.2221G>T	NP_001578.2:p.Ala741Ser
ENST00000357121.5:c.2221G>T	ENSP00000349635.5:p.Ala741Ser
ENST00000371113.8:c.2245G>T	ENSP00000360154.4:p.Ala749Ser
ENST00000646010.1:c.2293G>T
ENST00000646914.1:c.1422G>T
ENST00000647245.1:c.1796G>T
ENST00000693473.1:c.2362G>T
XM_005262422.1:c.1774G>T	XP_005262479.1:p.Ala592Ser
XM_005262422.2:c.1774G>T	XP_005262479.1:p.Ala592Ser
XM_011531342.1:c.2248G>T	XP_011529644.1:p.Ala750Ser
XM_011531343.1:c.2224G>T	XP_011529645.1:p.Ala742Ser
XM_011531344.1:c.2101G>T	XP_011529646.1:p.Ala701Ser
XM_011531344.3:c.2101G>T	XP_011529646.1:p.Ala701Ser
XM_011531345.1:c.2101G>T	XP_011529647.1:p.Ala701Ser
XM_011531345.3:c.2101G>T	XP_011529647.1:p.Ala701Ser
XM_011531346.1:c.2248G>T	XP_011529648.1:p.Ala750Ser
XM_017029554.1:c.2245G>T	XP_016885043.1:p.Ala749Ser