Canonical Allele Identifier: CA10436964

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68193952A>G , CM000685.2:g.68193952A>G	GRCh38
NC_000023.10:g.67413794A>G , CM000685.1:g.67413794A>G	GRCh37
NC_000023.9:g.67330519A>G	NCBI36
NG_008960.1:g.244506T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.3:c.1139T>C MANE Select	NP_002538.1:p.Met380Thr
ENST00000355520.6:c.1139T>C MANE Select	ENSP00000347710.5:p.Met380Thr
NM_002547.2:c.1139T>C	NP_002538.1:p.Met380Thr
ENST00000355520.5:c.1139T>C	ENSP00000347710.5:p.Met380Thr
ENST00000467444.1:n.423T>C
ENST00000679748.1:c.1139T>C	ENSP00000505800.1:p.Met380Thr
ENST00000679822.1:c.1139T>C	ENSP00000505810.1:p.Met380Thr
ENST00000680592.1:n.645T>C
ENST00000680612.1:c.1139T>C	ENSP00000505365.1:p.Met380Thr
ENST00000681408.1:c.1034T>C	ENSP00000506619.1:p.Met345Thr
XM_005262270.1:c.1139T>C	XP_005262327.1:p.Met380Thr
XM_006724653.1:c.1139T>C	XP_006724716.1:p.Met380Thr
XM_006724653.2:c.1139T>C	XP_006724716.1:p.Met380Thr
XM_011530961.1:c.1139T>C	XP_011529263.1:p.Met380Thr
XM_017029555.1:c.1139T>C	XP_016885044.1:p.Met380Thr