Canonical Allele Identifier: CA413430289

Gene: OPHN1

Linked Data

• gnomAD v4: X-68063935-T-G
• MyVariant Identifiers: chrX:g.67283777T>G (hg19) ; chrX:g.68063935T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063935T>G , CM000685.2:g.68063935T>G	GRCh38
NC_000023.10:g.67283777T>G , CM000685.1:g.67283777T>G	GRCh37
NC_000023.9:g.67200502T>G	NCBI36
NG_008960.1:g.374523A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2077A>C MANE Select	ENSP00000347710.5:p.Met693Leu
ENST00000679748.1:c.1834+9217A>C	ENSP00000505800.1:n.1834+9217A>C
ENST00000679822.1:c.1834+9217A>C	ENSP00000505810.1:n.1834+9217A>C
ENST00000680592.1:n.1583A>C
ENST00000680612.1:c.1686+32935A>C	ENSP00000505365.1:n.1686+32935A>C
ENST00000681408.1:c.1972A>C	ENSP00000506619.1:p.Met658Leu
ENST00000355520.5:c.2077A>C	ENSP00000347710.5:p.Met693Leu
ENST00000484842.1:n.693A>C
NM_002547.2:c.2077A>C	NP_002538.1:p.Met693Leu
XM_005262270.1:c.1834+9217A>C	XP_005262327.1:n.1834+9217A>C
XM_006724653.1:c.2077A>C	XP_006724716.1:p.Met693Leu
XM_011530961.1:c.2077A>C	XP_011529263.1:p.Met693Leu
XM_006724653.2:c.2077A>C	XP_006724716.1:p.Met693Leu
NM_002547.3:c.2077A>C MANE Select	NP_002538.1:p.Met693Leu