Canonical Allele Identifier: CA10634931

Gene: OPTN

Linked Data

• ClinVar Variation Id: 299236
• ClinVar RCV Id: RCV000326379 ; RCV000380977
• dbSNP Id: rs542617940
• gnomAD v2: 10-13180117-C-G
• gnomAD v3: 10-13138117-C-G
• gnomAD v4: 10-13138117-C-G
• MyVariant Identifiers: chr10:g.13180117C>G (hg19) ; chr10:g.13138117C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13138117C>G , CM000672.2:g.13138117C>G	GRCh38
NC_000010.10:g.13180117C>G , CM000672.1:g.13180117C>G	GRCh37
NC_000010.9:g.13220123C>G	NCBI36
NG_012876.1:g.43036C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.*1251C>G MANE Select	ENSP00000368021.3:n.*1251C>G
ENST00000378747.7:c.*1251C>G	ENSP00000368021.3:n.*1251C>G
ENST00000378748.7:c.*1251C>G	ENSP00000368022.3:n.*1251C>G
ENST00000378752.7:c.*1251C>G	ENSP00000368027.3:n.*1251C>G
ENST00000378757.6:c.*1251C>G	ENSP00000368032.2:n.*1251C>G
NM_001008211.1:c.*1251C>G	NP_001008212.1:n.*1251C>G
NM_001008212.1:c.*1251C>G	NP_001008213.1:n.*1251C>G
NM_001008213.1:c.*1251C>G	NP_001008214.1:n.*1251C>G
NM_021980.4:c.*1251C>G	NP_068815.2:n.*1251C>G
XM_005252336.2:c.*1251C>G	XP_005252393.2:n.*1251C>G
XM_005252337.3:c.*1251C>G	XP_005252394.2:n.*1251C>G
XM_005252338.2:c.*1251C>G	XP_005252395.2:n.*1251C>G
NM_001008212.2:c.*1251C>G MANE Select	NP_001008213.1:n.*1251C>G