Canonical Allele Identifier: CA2435289725

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68064039A= , CM000685.2:g.68064039A=	GRCh38
NC_000023.10:g.67283881A= , CM000685.1:g.67283881A=	GRCh37
NC_000023.9:g.67200606A=	NCBI36
NG_008960.1:g.374419T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.1973T= MANE Select	ENSP00000347710.5:p.Leu658=
ENST00000679748.1:c.1834+9113T=	ENSP00000505800.1:n.1834+9113T=
ENST00000679822.1:c.1834+9113T=	ENSP00000505810.1:n.1834+9113T=
ENST00000680592.1:n.1479T=
ENST00000680612.1:c.1686+32831T=	ENSP00000505365.1:n.1686+32831T=
ENST00000681408.1:c.1868T=	ENSP00000506619.1:p.Leu623=
ENST00000355520.5:c.1973T=	ENSP00000347710.5:p.Leu658=
ENST00000484842.1:n.589T=
NM_002547.2:c.1973T=	NP_002538.1:p.Leu658=
XM_005262270.1:c.1834+9113T=	XP_005262327.1:n.1834+9113T=
XM_006724653.1:c.1973T=	XP_006724716.1:p.Leu658=
XM_011530961.1:c.1973T=	XP_011529263.1:p.Leu658=
XM_006724653.2:c.1973T=	XP_006724716.1:p.Leu658=
NM_002547.3:c.1973T= MANE Select	NP_002538.1:p.Leu658=