Canonical Allele Identifier: CA622307561

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1699573
• ClinVar RCV Id: RCV002273430 ; RCV003774869
• dbSNP Id: rs1265902011
• gnomAD v2: 16-56385361-C-G
• MyVariant Identifiers: chr16:g.56385361C>G (hg19) ; chr16:g.56351449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351449C>G , CM000678.2:g.56351449C>G	GRCh38
NC_000016.9:g.56385361C>G , CM000678.1:g.56385361C>G	GRCh37
NC_000016.8:g.54942862C>G	NCBI36
NG_042800.1:g.165111C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.789C>G MANE Select	ENSP00000262493.6:p.Thr263=
ENST00000562316.6:c.456C>G	ENSP00000457238.2:p.Thr152=
ENST00000564727.2:c.93C>G	ENSP00000454971.2:p.Thr31=
ENST00000568375.2:c.116-3417C>G
ENST00000638185.1:n.1004C>G
ENST00000638210.1:n.1089C>G
ENST00000638705.1:c.789C>G	ENSP00000491223.1:p.Thr263=
ENST00000638836.1:n.699C>G
ENST00000639055.1:n.1510C>G
ENST00000639251.1:n.690C>G
ENST00000639268.1:c.424C>G
ENST00000639341.1:c.314C>G
ENST00000639770.1:c.827C>G	ENSP00000491999.1:n.827C>G
ENST00000640390.1:n.719C>G
ENST00000640469.1:c.153C>G	ENSP00000491875.1:p.Thr51=
ENST00000640560.1:n.565C>G
ENST00000640893.1:c.*187C>G	ENSP00000492677.1:n.*187C>G
ENST00000262493.10:c.789C>G	ENSP00000262493.6:p.Thr263=
ENST00000564727.1:c.9C>G	ENSP00000454971.1:p.Thr3=
ENST00000568375.1:n.116-3417C>G
NM_020988.2:c.789C>G	NP_066268.1:p.Thr263=
XM_011523003.1:c.663C>G	XP_011521305.1:p.Thr221=
XM_011523003.3:c.663C>G	XP_011521305.1:p.Thr221=
NM_020988.3:c.789C>G MANE Select	NP_066268.1:p.Thr263=