Canonical Allele Identifier: CA5410805

Gene: OPTN

Linked Data

• dbSNP Id: rs751309917
• ExAC: 10:13165997 T / C
• gnomAD v2: 10-13165997-T-C
• gnomAD v3: 10-13123997-T-C
• gnomAD v4: 10-13123997-T-C
• MyVariant Identifiers: chr10:g.13165997T>C (hg19) ; chr10:g.13123997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13123997T>C , CM000672.2:g.13123997T>C	GRCh38
NC_000010.10:g.13165997T>C , CM000672.1:g.13165997T>C	GRCh37
NC_000010.9:g.13206003T>C	NCBI36
NG_012876.1:g.28916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.885T>C MANE Select	ENSP00000368021.3:p.Val295=
ENST00000263036.9:c.885T>C	ENSP00000263036.3:p.Val295=
ENST00000378747.7:c.885T>C	ENSP00000368021.3:p.Val295=
ENST00000378748.7:c.885T>C	ENSP00000368022.3:p.Val295=
ENST00000378752.7:c.867T>C	ENSP00000368027.3:p.Val289=
ENST00000378757.6:c.885T>C	ENSP00000368032.2:p.Val295=
ENST00000378764.6:c.867T>C	ENSP00000368040.1:p.Val289=
NM_001008211.1:c.885T>C	NP_001008212.1:p.Val295=
NM_001008212.1:c.885T>C	NP_001008213.1:p.Val295=
NM_001008213.1:c.885T>C	NP_001008214.1:p.Val295=
NM_021980.4:c.885T>C	NP_068815.2:p.Val295=
XM_005252336.2:c.867T>C	XP_005252393.2:p.Val289=
XM_005252337.3:c.867T>C	XP_005252394.2:p.Val289=
XM_005252338.2:c.714T>C	XP_005252395.2:p.Val238=
NM_001008212.2:c.885T>C MANE Select	NP_001008213.1:p.Val295=