Canonical Allele Identifier: CA16433572

Gene: OPCML

Linked Data

• dbSNP Id: rs4379857
• gnomAD v2: 11-133183604-G-A
• gnomAD v3: 11-133313709-G-A
• gnomAD v4: 11-133313709-G-A
• MyVariant Identifiers: chr11:g.133183604G>A (hg19) ; chr11:g.133313709G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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