Canonical Allele Identifier: CA8064003

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 699773
• ClinVar RCV Id: RCV000867707
• dbSNP Id: rs145546431
• ExAC: 16:56385442 A / G
• gnomAD v2: 16-56385442-A-G
• gnomAD v3: 16-56351530-A-G
• gnomAD v4: 16-56351530-A-G
• MyVariant Identifiers: chr16:g.56385442A>G (hg19) ; chr16:g.56351530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351530A>G , CM000678.2:g.56351530A>G	GRCh38
NC_000016.9:g.56385442A>G , CM000678.1:g.56385442A>G	GRCh37
NC_000016.8:g.54942943A>G	NCBI36
NG_042800.1:g.165192A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.870A>G MANE Select	ENSP00000262493.6:p.Glu290=
ENST00000562316.6:c.537A>G	ENSP00000457238.2:p.Glu179=
ENST00000564727.2:c.174A>G	ENSP00000454971.2:p.Glu58=
ENST00000568375.2:c.116-3336A>G
ENST00000638185.1:n.1085A>G
ENST00000638210.1:n.1170A>G
ENST00000638705.1:c.870A>G	ENSP00000491223.1:p.Glu290=
ENST00000638836.1:n.780A>G
ENST00000639055.1:n.1591A>G
ENST00000639251.1:n.771A>G
ENST00000639268.1:c.505A>G
ENST00000639341.1:c.395A>G
ENST00000639770.1:c.908A>G	ENSP00000491999.1:n.908A>G
ENST00000640390.1:n.800A>G
ENST00000640469.1:c.234A>G	ENSP00000491875.1:p.Glu78=
ENST00000640560.1:n.646A>G
ENST00000640893.1:c.*268A>G	ENSP00000492677.1:n.*268A>G
ENST00000262493.10:c.870A>G	ENSP00000262493.6:p.Glu290=
ENST00000564727.1:c.90A>G	ENSP00000454971.1:p.Glu30=
ENST00000568375.1:n.116-3336A>G
NM_020988.2:c.870A>G	NP_066268.1:p.Glu290=
XM_011523003.1:c.744A>G	XP_011521305.1:p.Glu248=
XM_011523003.3:c.744A>G	XP_011521305.1:p.Glu248=
NM_020988.3:c.870A>G MANE Select	NP_066268.1:p.Glu290=