Canonical Allele Identifier: CA517048662

Gene: OPHN1

Linked Data

• ClinVar Variation Id: 744258
• ClinVar RCV Id: RCV000920696
• dbSNP Id: rs1602131615
• MyVariant Identifiers: chrX:g.67283778G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063936G>C , CM000685.2:g.68063936G>C	GRCh38
NC_000023.10:g.67283778G>C , CM000685.1:g.67283778G>C	GRCh37
NC_000023.9:g.67200503G>C	NCBI36
NG_008960.1:g.374522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2076C>G MANE Select	ENSP00000347710.5:p.Pro692=
ENST00000679748.1:c.1834+9216C>G	ENSP00000505800.1:n.1834+9216C>G
ENST00000679822.1:c.1834+9216C>G	ENSP00000505810.1:n.1834+9216C>G
ENST00000680592.1:n.1582C>G
ENST00000680612.1:c.1686+32934C>G	ENSP00000505365.1:n.1686+32934C>G
ENST00000681408.1:c.1971C>G	ENSP00000506619.1:p.Pro657=
ENST00000355520.5:c.2076C>G	ENSP00000347710.5:p.Pro692=
ENST00000484842.1:n.692C>G
NM_002547.2:c.2076C>G	NP_002538.1:p.Pro692=
XM_005262270.1:c.1834+9216C>G	XP_005262327.1:n.1834+9216C>G
XM_006724653.1:c.2076C>G	XP_006724716.1:p.Pro692=
XM_011530961.1:c.2076C>G	XP_011529263.1:p.Pro692=
XM_006724653.2:c.2076C>G	XP_006724716.1:p.Pro692=
NM_002547.3:c.2076C>G MANE Select	NP_002538.1:p.Pro692=