Canonical Allele Identifier: CA517048516

Gene: OPHN1

Linked Data

• COSMIC: COSM5724432
• MyVariant Identifiers: chrX:g.67283742G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063900G>A , CM000685.2:g.68063900G>A	GRCh38
NC_000023.10:g.67283742G>A , CM000685.1:g.67283742G>A	GRCh37
NC_000023.9:g.67200467G>A	NCBI36
NG_008960.1:g.374558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2112C>T MANE Select	ENSP00000347710.5:p.Phe704=
ENST00000679748.1:c.1834+9252C>T	ENSP00000505800.1:n.1834+9252C>T
ENST00000679822.1:c.1834+9252C>T	ENSP00000505810.1:n.1834+9252C>T
ENST00000680592.1:n.1618C>T
ENST00000680612.1:c.1686+32970C>T	ENSP00000505365.1:n.1686+32970C>T
ENST00000681408.1:c.2007C>T	ENSP00000506619.1:p.Phe669=
ENST00000355520.5:c.2112C>T	ENSP00000347710.5:p.Phe704=
ENST00000484842.1:n.728C>T
NM_002547.2:c.2112C>T	NP_002538.1:p.Phe704=
XM_005262270.1:c.1834+9252C>T	XP_005262327.1:n.1834+9252C>T
XM_006724653.1:c.2112C>T	XP_006724716.1:p.Phe704=
XM_011530961.1:c.2112C>T	XP_011529263.1:p.Phe704=
XM_006724653.2:c.2112C>T	XP_006724716.1:p.Phe704=
NM_002547.3:c.2112C>T MANE Select	NP_002538.1:p.Phe704=