Canonical Allele Identifier: CA2010094843

Gene: OPCML

Linked Data

• dbSNP Id: rs1784519
• gnomAD v4: 11-132656970-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.132656970A>T , CM000673.2:g.132656970A>T	GRCh38
NC_000011.9:g.132526865A>T , CM000673.1:g.132526865A>T	GRCh37
NC_000011.8:g.132032075A>T	NCBI36
NG_012107.1:g.880539T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000541867.6:c.400+117T>A	ENSP00000445496.1:n.400+117T>A
ENST00000524381.6:c.379+117T>A MANE Select	ENSP00000434750.1:n.379+117T>A
ENST00000331898.11:c.400+117T>A	ENSP00000330862.7:n.400+117T>A
ENST00000374778.4:c.277+117T>A	ENSP00000363910.4:n.277+117T>A
ENST00000524381.5:c.379+117T>A	ENSP00000434750.1:n.379+117T>A
ENST00000529038.5:n.372+117T>A
ENST00000541867.5:c.400+117T>A	ENSP00000445496.1:n.400+117T>A
ENST00000612177.4:c.400+117T>A	ENSP00000482061.1:n.400+117T>A
NM_001012393.1:c.379+117T>A	NP_001012393.1:n.379+117T>A
NM_002545.3:c.400+117T>A	NP_002536.1:n.400+117T>A
XM_005271574.2:c.400+117T>A	XP_005271631.1:n.400+117T>A
XM_006718846.1:c.379+117T>A	XP_006718909.1:n.379+117T>A
XM_011542856.1:c.277+117T>A	XP_011541158.1:n.277+117T>A
NM_001012393.2:c.379+117T>A	NP_001012393.1:n.379+117T>A
NM_001319103.1:c.400+117T>A	NP_001306032.1:n.400+117T>A
NM_001319104.1:c.100+117T>A	NP_001306033.1:n.100+117T>A
NM_001319105.1:c.277+117T>A	NP_001306034.1:n.277+117T>A
NM_001319106.1:c.400+117T>A	NP_001306035.1:n.400+117T>A
NM_002545.4:c.400+117T>A	NP_002536.1:n.400+117T>A
XM_006718846.3:c.379+117T>A	XP_006718909.1:n.379+117T>A
XM_011542856.3:c.277+117T>A	XP_011541158.1:n.277+117T>A
NM_001012393.3:c.379+117T>A	NP_001012393.1:n.379+117T>A
NM_001319104.2:c.100+117T>A	NP_001306033.1:n.100+117T>A
NM_001012393.5:c.379+117T>A MANE Select	NP_001012393.1:n.379+117T>A
NM_001319103.2:c.400+117T>A	NP_001306032.1:n.400+117T>A
NM_001319104.4:c.100+117T>A	NP_001306033.1:n.100+117T>A
NM_001319105.2:c.277+117T>A	NP_001306034.1:n.277+117T>A
NM_001319106.2:c.400+117T>A	NP_001306035.1:n.400+117T>A
NM_002545.5:c.400+117T>A	NP_002536.1:n.400+117T>A