Canonical Allele Identifier: CA10512131

Gene: OCRL

Linked Data

• dbSNP Id: rs748221037
• ExAC: X:128696543 G / T
• gnomAD v2: X-128696543-G-T
• gnomAD v4: X-129562566-G-T
• MyVariant Identifiers: chrX:g.128696543G>T (hg19) ; chrX:g.129562566G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129562566G>T , CM000685.2:g.129562566G>T	GRCh38
NC_000023.10:g.128696543G>T , CM000685.1:g.128696543G>T	GRCh37
NC_000023.9:g.128524224G>T	NCBI36
NG_008638.1:g.27292G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691455.1:c.*1349-33G>T	ENSP00000510265.1:n.*1349-33G>T
ENST00000693473.1:c.1174-33G>T
ENST00000371113.9:c.1057-33G>T MANE Select	ENSP00000360154.4:n.1057-33G>T
ENST00000646010.1:c.1105-33G>T
ENST00000646914.1:c.168-33G>T
ENST00000647245.1:c.708-33G>T
ENST00000357121.5:c.1057-33G>T	ENSP00000349635.5:n.1057-33G>T
ENST00000371113.8:c.1057-33G>T	ENSP00000360154.4:n.1057-33G>T
NM_000276.3:c.1057-33G>T	NP_000267.2:n.1057-33G>T
NM_001587.3:c.1057-33G>T	NP_001578.2:n.1057-33G>T
XM_005262422.1:c.586-33G>T	XP_005262479.1:n.586-33G>T
XM_011531342.1:c.1060-33G>T	XP_011529644.1:n.1060-33G>T
XM_011531343.1:c.1060-33G>T	XP_011529645.1:n.1060-33G>T
XM_011531344.1:c.913-33G>T	XP_011529646.1:n.913-33G>T
XM_011531345.1:c.913-33G>T	XP_011529647.1:n.913-33G>T
XM_011531346.1:c.1060-33G>T	XP_011529648.1:n.1060-33G>T
NM_001318784.1:c.1060-33G>T	NP_001305713.1:n.1060-33G>T
XM_005262422.2:c.586-33G>T	XP_005262479.1:n.586-33G>T
XM_011531344.3:c.913-33G>T	XP_011529646.1:n.913-33G>T
XM_011531345.3:c.913-33G>T	XP_011529647.1:n.913-33G>T
XM_017029554.1:c.1057-33G>T	XP_016885043.1:n.1057-33G>T
NM_000276.4:c.1057-33G>T MANE Select	NP_000267.2:n.1057-33G>T
NM_001318784.2:c.1060-33G>T	NP_001305713.1:n.1060-33G>T
NM_001587.4:c.1057-33G>T	NP_001578.2:n.1057-33G>T