Canonical Allele Identifier: CA13475186

Gene: OPCML

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.133251042C>A , CM000673.2:g.133251042C>A	GRCh38
NC_000011.9:g.133120937C>A , CM000673.1:g.133120937C>A	GRCh37
NC_000011.8:g.132626147C>A	NCBI36
NG_012107.1:g.286467G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524381.6:c.61+281222G>T MANE Select	ENSP00000434750.1:n.61+281222G>T
ENST00000524381.5:c.61+281222G>T	ENSP00000434750.1:n.61+281222G>T
ENST00000529038.5:n.139+281222G>T
NM_001012393.1:c.61+281222G>T	NP_001012393.1:n.61+281222G>T
XM_006718846.1:c.61+281222G>T	XP_006718909.1:n.61+281222G>T
XM_011542856.1:c.-42+45982G>T	XP_011541158.1:n.-42+45982G>T
XR_429015.2:n.216-278G>T
NM_001012393.2:c.61+281222G>T	NP_001012393.1:n.61+281222G>T
NM_001319104.1:c.-134+281222G>T	NP_001306033.1:n.-134+281222G>T
XM_006718846.3:c.61+281222G>T	XP_006718909.1:n.61+281222G>T
XM_011542856.3:c.-42+45982G>T	XP_011541158.1:n.-42+45982G>T
NM_001012393.3:c.61+281222G>T	NP_001012393.1:n.61+281222G>T
NM_001319104.2:c.-134+281222G>T	NP_001306033.1:n.-134+281222G>T
NM_001012393.5:c.61+281222G>T MANE Select	NP_001012393.1:n.61+281222G>T
NM_001319104.4:c.-134+281222G>T	NP_001306033.1:n.-134+281222G>T