Canonical Allele Identifier: CA413430714

Gene: OPHN1

Linked Data

• dbSNP Id: rs1278200946
• COSMIC: COSM3708702
• MyVariant Identifiers: chrX:g.67283909C>A (hg19) ; chrX:g.68064067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68064067C>A , CM000685.2:g.68064067C>A	GRCh38
NC_000023.10:g.67283909C>A , CM000685.1:g.67283909C>A	GRCh37
NC_000023.9:g.67200634C>A	NCBI36
NG_008960.1:g.374391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.1945G>T MANE Select	ENSP00000347710.5:p.Gly649Trp
ENST00000679748.1:c.1834+9085G>T	ENSP00000505800.1:n.1834+9085G>T
ENST00000679822.1:c.1834+9085G>T	ENSP00000505810.1:n.1834+9085G>T
ENST00000680592.1:n.1451G>T
ENST00000680612.1:c.1686+32803G>T	ENSP00000505365.1:n.1686+32803G>T
ENST00000681408.1:c.1840G>T	ENSP00000506619.1:p.Gly614Trp
ENST00000355520.5:c.1945G>T	ENSP00000347710.5:p.Gly649Trp
ENST00000484842.1:n.561G>T
NM_002547.2:c.1945G>T	NP_002538.1:p.Gly649Trp
XM_005262270.1:c.1834+9085G>T	XP_005262327.1:n.1834+9085G>T
XM_006724653.1:c.1945G>T	XP_006724716.1:p.Gly649Trp
XM_011530961.1:c.1945G>T	XP_011529263.1:p.Gly649Trp
XM_006724653.2:c.1945G>T	XP_006724716.1:p.Gly649Trp
NM_002547.3:c.1945G>T MANE Select	NP_002538.1:p.Gly649Trp