Canonical Allele Identifier: CA395954637

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1710018
• ClinVar RCV Id: RCV002290360
• MyVariant Identifiers: chr16:g.56385323T>A (hg19) ; chr16:g.56351411T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351411T>A , CM000678.2:g.56351411T>A	GRCh38
NC_000016.9:g.56385323T>A , CM000678.1:g.56385323T>A	GRCh37
NC_000016.8:g.54942824T>A	NCBI36
NG_042800.1:g.165073T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.751T>A MANE Select	ENSP00000262493.6:p.Phe251Ile
ENST00000562316.6:c.418T>A	ENSP00000457238.2:p.Phe140Ile
ENST00000564727.2:c.55T>A	ENSP00000454971.2:p.Phe19Ile
ENST00000568375.2:c.116-3455T>A
ENST00000638185.1:n.966T>A
ENST00000638210.1:n.1051T>A
ENST00000638705.1:c.751T>A	ENSP00000491223.1:p.Phe251Ile
ENST00000638836.1:n.661T>A
ENST00000639055.1:n.1472T>A
ENST00000639251.1:n.652T>A
ENST00000639268.1:c.386T>A
ENST00000639341.1:c.276T>A
ENST00000639770.1:c.789T>A	ENSP00000491999.1:n.789T>A
ENST00000640390.1:n.681T>A
ENST00000640469.1:c.115T>A	ENSP00000491875.1:p.Phe39Ile
ENST00000640560.1:n.527T>A
ENST00000640893.1:c.*149T>A	ENSP00000492677.1:n.*149T>A
ENST00000262493.10:c.751T>A	ENSP00000262493.6:p.Phe251Ile
ENST00000568375.1:n.116-3455T>A
NM_020988.2:c.751T>A	NP_066268.1:p.Phe251Ile
XM_011523003.1:c.625T>A	XP_011521305.1:p.Phe209Ile
XM_011523003.3:c.625T>A	XP_011521305.1:p.Phe209Ile
NM_020988.3:c.751T>A MANE Select	NP_066268.1:p.Phe251Ile