Canonical Allele Identifier: CA172909

Gene: OPHN1

Linked Data

• ClinVar Variation Id: 94074
• ClinVar RCV Id: RCV002251969 ; RCV002316238 ; RCV003935040
• dbSNP Id: rs143713841
• ExAC: X:67283825 G / T
• gnomAD v2: X-67283825-G-T
• gnomAD v3: X-68063983-G-T
• gnomAD v4: X-68063983-G-T
• MyVariant Identifiers: chrX:g.67283825G>T (hg19) ; chrX:g.68063983G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063983G>T , CM000685.2:g.68063983G>T	GRCh38
NC_000023.10:g.67283825G>T , CM000685.1:g.67283825G>T	GRCh37
NC_000023.9:g.67200550G>T	NCBI36
NG_008960.1:g.374475C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355520.6:c.2029C>A MANE Select	ENSP00000347710.5:p.Leu677Met
ENST00000679748.1:c.1834+9169C>A	ENSP00000505800.1:n.1834+9169C>A
ENST00000679822.1:c.1834+9169C>A	ENSP00000505810.1:n.1834+9169C>A
ENST00000680592.1:n.1535C>A
ENST00000680612.1:c.1686+32887C>A	ENSP00000505365.1:n.1686+32887C>A
ENST00000681408.1:c.1924C>A	ENSP00000506619.1:p.Leu642Met
ENST00000355520.5:c.2029C>A	ENSP00000347710.5:p.Leu677Met
ENST00000484842.1:n.645C>A
NM_002547.2:c.2029C>A	NP_002538.1:p.Leu677Met
XM_005262270.1:c.1834+9169C>A	XP_005262327.1:n.1834+9169C>A
XM_006724653.1:c.2029C>A	XP_006724716.1:p.Leu677Met
XM_011530961.1:c.2029C>A	XP_011529263.1:p.Leu677Met
XM_006724653.2:c.2029C>A	XP_006724716.1:p.Leu677Met
NM_002547.3:c.2029C>A MANE Select	NP_002538.1:p.Leu677Met