Canonical Allele Identifier: CA376030202

Gene: OPTN

Linked Data

• dbSNP Id: rs1387724032
• gnomAD v3: 10-13132090-T-G
• gnomAD v4: 10-13132090-T-G
• MyVariant Identifiers: chr10:g.13174090T>G (hg19) ; chr10:g.13132090T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13132090T>G , CM000672.2:g.13132090T>G	GRCh38
NC_000010.10:g.13174090T>G , CM000672.1:g.13174090T>G	GRCh37
NC_000010.9:g.13214096T>G	NCBI36
NG_012876.1:g.37009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1425T>G MANE Select	ENSP00000368021.3:p.Phe475Leu
ENST00000263036.9:c.1425T>G	ENSP00000263036.3:p.Phe475Leu
ENST00000378747.7:c.1425T>G	ENSP00000368021.3:p.Phe475Leu
ENST00000378748.7:c.1425T>G	ENSP00000368022.3:p.Phe475Leu
ENST00000378752.7:c.1407T>G	ENSP00000368027.3:p.Phe469Leu
ENST00000378757.6:c.1425T>G	ENSP00000368032.2:p.Phe475Leu
ENST00000378764.6:c.1407T>G	ENSP00000368040.1:p.Phe469Leu
ENST00000469025.1:n.281T>G
NM_001008211.1:c.1425T>G	NP_001008212.1:p.Phe475Leu
NM_001008212.1:c.1425T>G	NP_001008213.1:p.Phe475Leu
NM_001008213.1:c.1425T>G	NP_001008214.1:p.Phe475Leu
NM_021980.4:c.1425T>G	NP_068815.2:p.Phe475Leu
XM_005252336.2:c.1407T>G	XP_005252393.2:p.Phe469Leu
XM_005252337.3:c.1407T>G	XP_005252394.2:p.Phe469Leu
XM_005252338.2:c.1254T>G	XP_005252395.2:p.Phe418Leu
NM_001008212.2:c.1425T>G MANE Select	NP_001008213.1:p.Phe475Leu