Canonical Allele Identifier: CA376029113

Gene: OPTN

Linked Data

• gnomAD v4: 10-13124085-C-A
• MyVariant Identifiers: chr10:g.13166085C>A (hg19) ; chr10:g.13124085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13124085C>A , CM000672.2:g.13124085C>A	GRCh38
NC_000010.10:g.13166085C>A , CM000672.1:g.13166085C>A	GRCh37
NC_000010.9:g.13206091C>A	NCBI36
NG_012876.1:g.29004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.973C>A MANE Select	ENSP00000368021.3:p.Leu325Ile
ENST00000263036.9:c.973C>A	ENSP00000263036.3:p.Leu325Ile
ENST00000378747.7:c.973C>A	ENSP00000368021.3:p.Leu325Ile
ENST00000378748.7:c.973C>A	ENSP00000368022.3:p.Leu325Ile
ENST00000378752.7:c.955C>A	ENSP00000368027.3:p.Leu319Ile
ENST00000378757.6:c.973C>A	ENSP00000368032.2:p.Leu325Ile
ENST00000378764.6:c.955C>A	ENSP00000368040.1:p.Leu319Ile
NM_001008211.1:c.973C>A	NP_001008212.1:p.Leu325Ile
NM_001008212.1:c.973C>A	NP_001008213.1:p.Leu325Ile
NM_001008213.1:c.973C>A	NP_001008214.1:p.Leu325Ile
NM_021980.4:c.973C>A	NP_068815.2:p.Leu325Ile
XM_005252336.2:c.955C>A	XP_005252393.2:p.Leu319Ile
XM_005252337.3:c.955C>A	XP_005252394.2:p.Leu319Ile
XM_005252338.2:c.802C>A	XP_005252395.2:p.Leu268Ile
NM_001008212.2:c.973C>A MANE Select	NP_001008213.1:p.Leu325Ile