Canonical Allele Identifier: CA673671952

Gene: OPCML

Linked Data

• dbSNP Id: rs4379857
• MyVariant Identifiers: chr11:g.133183604G>T (hg19) ; chr11:g.133313709G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.133313709G>T , CM000673.2:g.133313709G>T	GRCh38
NC_000011.9:g.133183604G>T , CM000673.1:g.133183604G>T	GRCh37
NC_000011.8:g.132688814G>T	NCBI36
NG_012107.1:g.223800C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524381.6:c.61+218555C>A MANE Select	ENSP00000434750.1:n.61+218555C>A
ENST00000524381.5:c.61+218555C>A	ENSP00000434750.1:n.61+218555C>A
ENST00000529038.5:n.139+218555C>A
NM_001012393.1:c.61+218555C>A	NP_001012393.1:n.61+218555C>A
XM_006718846.1:c.61+218555C>A	XP_006718909.1:n.61+218555C>A
XR_429015.2:n.20+23621C>A
NM_001012393.2:c.61+218555C>A	NP_001012393.1:n.61+218555C>A
NM_001319104.1:c.-134+218555C>A	NP_001306033.1:n.-134+218555C>A
XM_006718846.3:c.61+218555C>A	XP_006718909.1:n.61+218555C>A
XM_011542856.3:c.-206-16521C>A	XP_011541158.1:n.-206-16521C>A
NM_001012393.3:c.61+218555C>A	NP_001012393.1:n.61+218555C>A
NM_001319104.2:c.-134+218555C>A	NP_001306033.1:n.-134+218555C>A
NM_001012393.5:c.61+218555C>A MANE Select	NP_001012393.1:n.61+218555C>A
NM_001319104.4:c.-134+218555C>A	NP_001306033.1:n.-134+218555C>A