Canonical Allele Identifier: CA8063792

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1118846
• ClinVar RCV Id: RCV001448103
• dbSNP Id: rs761449625
• ExAC: 16:56368719 A / G
• gnomAD v2: 16-56368719-A-G
• gnomAD v3: 16-56334807-A-G
• gnomAD v4: 16-56334807-A-G
• MyVariant Identifiers: chr16:g.56368719A>G (hg19) ; chr16:g.56334807A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334807A>G , CM000678.2:g.56334807A>G	GRCh38
NC_000016.9:g.56368719A>G , CM000678.1:g.56368719A>G	GRCh37
NC_000016.8:g.54926220A>G	NCBI36
NG_042800.1:g.148469A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.543A>G	ENSP00000262494.7:p.Lys181=
ENST00000262493.12:c.543A>G MANE Select	ENSP00000262493.6:p.Lys181=
ENST00000262494.12:c.543A>G	ENSP00000262494.7:p.Lys181=
ENST00000562316.6:c.210A>G	ENSP00000457238.2:p.Lys70=
ENST00000638185.1:n.758A>G
ENST00000638210.1:n.843A>G
ENST00000638705.1:c.543A>G	ENSP00000491223.1:p.Lys181=
ENST00000638836.1:n.453A>G
ENST00000639055.1:n.1264A>G
ENST00000639251.1:n.444A>G
ENST00000639268.1:c.229-1924A>G
ENST00000639341.1:c.68A>G
ENST00000639770.1:c.581A>G	ENSP00000491999.1:n.581A>G
ENST00000640390.1:n.473A>G
ENST00000640893.1:c.382A>G	ENSP00000492677.1:p.Asn128Asp
ENST00000262493.10:c.543A>G	ENSP00000262493.6:p.Lys181=
ENST00000262494.11:c.543A>G	ENSP00000262494.7:p.Lys181=
ENST00000562316.5:c.282A>G	ENSP00000457238.1:p.Lys94=
NM_020988.2:c.543A>G	NP_066268.1:p.Lys181=
NM_138736.2:c.543A>G	NP_620073.2:p.Lys181=
XM_011523003.1:c.417A>G	XP_011521305.1:p.Lys139=
XM_011523003.3:c.417A>G	XP_011521305.1:p.Lys139=
NM_020988.3:c.543A>G MANE Select	NP_066268.1:p.Lys181=
NM_138736.3:c.543A>G	NP_620073.2:p.Lys181=