Canonical Allele Identifier: CA330807966

Gene: OPHN1

Linked Data

• dbSNP Id: rs928784828
• gnomAD v4: X-68064015-G-A
• MyVariant Identifiers: chrX:g.67283857G>A (hg19) ; chrX:g.68064015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68064015G>A , CM000685.2:g.68064015G>A	GRCh38
NC_000023.10:g.67283857G>A , CM000685.1:g.67283857G>A	GRCh37
NC_000023.9:g.67200582G>A	NCBI36
NG_008960.1:g.374443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.1997C>T MANE Select	ENSP00000347710.5:p.Pro666Leu
ENST00000679748.1:c.1834+9137C>T	ENSP00000505800.1:n.1834+9137C>T
ENST00000679822.1:c.1834+9137C>T	ENSP00000505810.1:n.1834+9137C>T
ENST00000680592.1:n.1503C>T
ENST00000680612.1:c.1686+32855C>T	ENSP00000505365.1:n.1686+32855C>T
ENST00000681408.1:c.1892C>T	ENSP00000506619.1:p.Pro631Leu
ENST00000355520.5:c.1997C>T	ENSP00000347710.5:p.Pro666Leu
ENST00000484842.1:n.613C>T
NM_002547.2:c.1997C>T	NP_002538.1:p.Pro666Leu
XM_005262270.1:c.1834+9137C>T	XP_005262327.1:n.1834+9137C>T
XM_006724653.1:c.1997C>T	XP_006724716.1:p.Pro666Leu
XM_011530961.1:c.1997C>T	XP_011529263.1:p.Pro666Leu
XM_006724653.2:c.1997C>T	XP_006724716.1:p.Pro666Leu
NM_002547.3:c.1997C>T MANE Select	NP_002538.1:p.Pro666Leu