Canonical Allele Identifier: CA943716636

Gene: OPCML

Linked Data

• dbSNP Id: rs10894604
• gnomAD v3: 11-132771851-T-A
• gnomAD v4: 11-132771851-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.132771851T>A , CM000673.2:g.132771851T>A	GRCh38
NC_000011.9:g.132641746T>A , CM000673.1:g.132641746T>A	GRCh37
NC_000011.8:g.132146956T>A	NCBI36
NG_012107.1:g.765658A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000541867.6:c.168-114532A>T	ENSP00000445496.1:n.168-114532A>T
ENST00000524381.6:c.147-114532A>T MANE Select	ENSP00000434750.1:n.147-114532A>T
ENST00000331898.11:c.168-114532A>T	ENSP00000330862.7:n.168-114532A>T
ENST00000374778.4:c.45-114532A>T	ENSP00000363910.4:n.45-114532A>T
ENST00000524381.5:c.147-114532A>T	ENSP00000434750.1:n.147-114532A>T
ENST00000525412.1:n.86-114532A>T
ENST00000529038.5:n.140-114532A>T
ENST00000541867.5:c.167+38942A>T	ENSP00000445496.1:n.167+38942A>T
ENST00000612177.4:c.167+38942A>T	ENSP00000482061.1:n.167+38942A>T
NM_001012393.1:c.147-114532A>T	NP_001012393.1:n.147-114532A>T
NM_002545.3:c.168-114532A>T	NP_002536.1:n.168-114532A>T
XM_005271574.2:c.168-114532A>T	XP_005271631.1:n.168-114532A>T
XM_006718846.1:c.147-114532A>T	XP_006718909.1:n.147-114532A>T
XM_011542856.1:c.45-114532A>T	XP_011541158.1:n.45-114532A>T
NM_001012393.2:c.147-114532A>T	NP_001012393.1:n.147-114532A>T
NM_001319103.1:c.168-114532A>T	NP_001306032.1:n.168-114532A>T
NM_001319104.1:c.-133-114532A>T	NP_001306033.1:n.-133-114532A>T
NM_001319105.1:c.45-114532A>T	NP_001306034.1:n.45-114532A>T
NM_001319106.1:c.168-114532A>T	NP_001306035.1:n.168-114532A>T
NM_002545.4:c.168-114532A>T	NP_002536.1:n.168-114532A>T
XM_006718846.3:c.147-114532A>T	XP_006718909.1:n.147-114532A>T
XM_011542856.3:c.45-114532A>T	XP_011541158.1:n.45-114532A>T
NM_001012393.3:c.147-114532A>T	NP_001012393.1:n.147-114532A>T
NM_001319104.2:c.-133-114532A>T	NP_001306033.1:n.-133-114532A>T
NM_001012393.5:c.147-114532A>T MANE Select	NP_001012393.1:n.147-114532A>T
NM_001319103.2:c.168-114532A>T	NP_001306032.1:n.168-114532A>T
NM_001319104.4:c.-133-114532A>T	NP_001306033.1:n.-133-114532A>T
NM_001319105.2:c.45-114532A>T	NP_001306034.1:n.45-114532A>T
NM_001319106.2:c.168-114532A>T	NP_001306035.1:n.168-114532A>T
NM_002545.5:c.168-114532A>T	NP_002536.1:n.168-114532A>T