Canonical Allele Identifier: CA413431465

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68073272C>G , CM000685.2:g.68073272C>G	GRCh38
NC_000023.10:g.67293114C>G , CM000685.1:g.67293114C>G	GRCh37
NC_000023.9:g.67209839C>G	NCBI36
NG_008960.1:g.365186G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.1714G>C MANE Select	NP_002538.1:p.Ala572Pro
ENST00000355520.6:c.1714G>C MANE Select	ENSP00000347710.5:p.Ala572Pro
NM_002547.2:c.1714G>C	NP_002538.1:p.Ala572Pro
ENST00000355520.5:c.1714G>C	ENSP00000347710.5:p.Ala572Pro
ENST00000484842.1:n.330G>C
ENST00000679748.1:c.1714G>C	ENSP00000505800.1:p.Ala572Pro
ENST00000679822.1:c.1714G>C	ENSP00000505810.1:p.Ala572Pro
ENST00000680592.1:n.1220G>C
ENST00000680612.1:c.1686+23598G>C	ENSP00000505365.1:n.1686+23598G>C
ENST00000681408.1:c.1609G>C	ENSP00000506619.1:p.Ala537Pro
XM_005262270.1:c.1714G>C	XP_005262327.1:p.Ala572Pro
XM_006724653.1:c.1714G>C	XP_006724716.1:p.Ala572Pro
XM_006724653.2:c.1714G>C	XP_006724716.1:p.Ala572Pro
XM_011530961.1:c.1714G>C	XP_011529263.1:p.Ala572Pro