Canonical Allele Identifier: CA10436799

Gene: OPHN1

Linked Data

• dbSNP Id: rs750463187
• ExAC: X:67283833 A / T
• gnomAD v2: X-67283833-A-T
• MyVariant Identifiers: chrX:g.67283833A>T (hg19) ; chrX:g.68063991A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063991A>T , CM000685.2:g.68063991A>T	GRCh38
NC_000023.10:g.67283833A>T , CM000685.1:g.67283833A>T	GRCh37
NC_000023.9:g.67200558A>T	NCBI36
NG_008960.1:g.374467T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2021T>A MANE Select	ENSP00000347710.5:p.Val674Glu
ENST00000679748.1:c.1834+9161T>A	ENSP00000505800.1:n.1834+9161T>A
ENST00000679822.1:c.1834+9161T>A	ENSP00000505810.1:n.1834+9161T>A
ENST00000680592.1:n.1527T>A
ENST00000680612.1:c.1686+32879T>A	ENSP00000505365.1:n.1686+32879T>A
ENST00000681408.1:c.1916T>A	ENSP00000506619.1:p.Val639Glu
ENST00000355520.5:c.2021T>A	ENSP00000347710.5:p.Val674Glu
ENST00000484842.1:n.637T>A
NM_002547.2:c.2021T>A	NP_002538.1:p.Val674Glu
XM_005262270.1:c.1834+9161T>A	XP_005262327.1:n.1834+9161T>A
XM_006724653.1:c.2021T>A	XP_006724716.1:p.Val674Glu
XM_011530961.1:c.2021T>A	XP_011529263.1:p.Val674Glu
XM_006724653.2:c.2021T>A	XP_006724716.1:p.Val674Glu
NM_002547.3:c.2021T>A MANE Select	NP_002538.1:p.Val674Glu