Canonical Allele Identifier: CA395954741

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 833622
• ClinVar RCV Id: RCV001034087 ; RCV004030926
• dbSNP Id: rs2037920534
• MyVariant Identifiers: chr16:g.56385365A>G (hg19) ; chr16:g.56351453A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351453A>G , CM000678.2:g.56351453A>G	GRCh38
NC_000016.9:g.56385365A>G , CM000678.1:g.56385365A>G	GRCh37
NC_000016.8:g.54942866A>G	NCBI36
NG_042800.1:g.165115A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.793A>G MANE Select	ENSP00000262493.6:p.Ile265Val
ENST00000562316.6:c.460A>G	ENSP00000457238.2:p.Ile154Val
ENST00000564727.2:c.97A>G	ENSP00000454971.2:p.Ile33Val
ENST00000568375.2:c.116-3413A>G
ENST00000638185.1:n.1008A>G
ENST00000638210.1:n.1093A>G
ENST00000638705.1:c.793A>G	ENSP00000491223.1:p.Ile265Val
ENST00000638836.1:n.703A>G
ENST00000639055.1:n.1514A>G
ENST00000639251.1:n.694A>G
ENST00000639268.1:c.428A>G
ENST00000639341.1:c.318A>G
ENST00000639770.1:c.831A>G	ENSP00000491999.1:n.831A>G
ENST00000640390.1:n.723A>G
ENST00000640469.1:c.157A>G	ENSP00000491875.1:p.Ile53Val
ENST00000640560.1:n.569A>G
ENST00000640893.1:c.*191A>G	ENSP00000492677.1:n.*191A>G
ENST00000262493.10:c.793A>G	ENSP00000262493.6:p.Ile265Val
ENST00000564727.1:c.13A>G	ENSP00000454971.1:p.Ile5Val
ENST00000568375.1:n.116-3413A>G
NM_020988.2:c.793A>G	NP_066268.1:p.Ile265Val
XM_011523003.1:c.667A>G	XP_011521305.1:p.Ile223Val
XM_011523003.3:c.667A>G	XP_011521305.1:p.Ile223Val
NM_020988.3:c.793A>G MANE Select	NP_066268.1:p.Ile265Val