Canonical Allele Identifier: CA221949

Gene: OPHN1

Linked Data

• ClinVar Variation Id: 94075
• ClinVar RCV Id: RCV000080020
• dbSNP Id: rs398123687
• gnomAD v4: X-68299001-C-T
• COSMIC: COSM1124233
• MyVariant Identifiers: chrX:g.67518843C>T (hg19) ; chrX:g.68299001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68299001C>T , CM000685.2:g.68299001C>T	GRCh38
NC_000023.10:g.67518843C>T , CM000685.1:g.67518843C>T	GRCh37
NC_000023.9:g.67435568C>T	NCBI36
NG_008960.1:g.139457G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355520.6:c.250G>A MANE Select	ENSP00000347710.5:p.Ala84Thr
ENST00000679748.1:c.250G>A	ENSP00000505800.1:p.Ala84Thr
ENST00000679822.1:c.250G>A	ENSP00000505810.1:p.Ala84Thr
ENST00000679914.1:n.609G>A
ENST00000680417.1:n.71G>A
ENST00000680503.1:n.927G>A
ENST00000680612.1:c.250G>A	ENSP00000505365.1:p.Ala84Thr
ENST00000681408.1:c.250G>A	ENSP00000506619.1:p.Ala84Thr
ENST00000355520.5:c.250G>A	ENSP00000347710.5:p.Ala84Thr
ENST00000486068.1:n.120G>A
NM_002547.2:c.250G>A	NP_002538.1:p.Ala84Thr
XM_005262270.1:c.250G>A	XP_005262327.1:p.Ala84Thr
XM_006724653.1:c.250G>A	XP_006724716.1:p.Ala84Thr
XM_011530961.1:c.250G>A	XP_011529263.1:p.Ala84Thr
XM_006724653.2:c.250G>A	XP_006724716.1:p.Ala84Thr
XM_017029555.1:c.250G>A	XP_016885044.1:p.Ala84Thr
NM_002547.3:c.250G>A MANE Select	NP_002538.1:p.Ala84Thr