Canonical Allele Identifier: CA413430667

Gene: OPHN1

Linked Data

• ClinVar Variation Id: 2073676
• ClinVar RCV Id: RCV002944119
• MyVariant Identifiers: chrX:g.67283897G>T (hg19) ; chrX:g.68064055G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68064055G>T , CM000685.2:g.68064055G>T	GRCh38
NC_000023.10:g.67283897G>T , CM000685.1:g.67283897G>T	GRCh37
NC_000023.9:g.67200622G>T	NCBI36
NG_008960.1:g.374403C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.1957C>A MANE Select	ENSP00000347710.5:p.Pro653Thr
ENST00000679748.1:c.1834+9097C>A	ENSP00000505800.1:n.1834+9097C>A
ENST00000679822.1:c.1834+9097C>A	ENSP00000505810.1:n.1834+9097C>A
ENST00000680592.1:n.1463C>A
ENST00000680612.1:c.1686+32815C>A	ENSP00000505365.1:n.1686+32815C>A
ENST00000681408.1:c.1852C>A	ENSP00000506619.1:p.Pro618Thr
ENST00000355520.5:c.1957C>A	ENSP00000347710.5:p.Pro653Thr
ENST00000484842.1:n.573C>A
NM_002547.2:c.1957C>A	NP_002538.1:p.Pro653Thr
XM_005262270.1:c.1834+9097C>A	XP_005262327.1:n.1834+9097C>A
XM_006724653.1:c.1957C>A	XP_006724716.1:p.Pro653Thr
XM_011530961.1:c.1957C>A	XP_011529263.1:p.Pro653Thr
XM_006724653.2:c.1957C>A	XP_006724716.1:p.Pro653Thr
NM_002547.3:c.1957C>A MANE Select	NP_002538.1:p.Pro653Thr