Canonical Allele Identifier: CA395952180

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2687758
• ClinVar RCV Id: RCV003484997
• MyVariant Identifiers: chr16:g.56370665C>G (hg19) ; chr16:g.56336753C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336753C>G , CM000678.2:g.56336753C>G	GRCh38
NC_000016.9:g.56370665C>G , CM000678.1:g.56370665C>G	GRCh37
NC_000016.8:g.54928166C>G	NCBI36
NG_042800.1:g.150415C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.616C>G	ENSP00000262494.7:p.Arg206Gly
ENST00000262493.12:c.616C>G MANE Select	ENSP00000262493.6:p.Arg206Gly
ENST00000262494.12:c.616C>G	ENSP00000262494.7:p.Arg206Gly
ENST00000562316.6:c.283C>G	ENSP00000457238.2:p.Arg95Gly
ENST00000568375.2:c.8C>G
ENST00000638185.1:n.831C>G
ENST00000638210.1:n.916C>G
ENST00000638705.1:c.616C>G	ENSP00000491223.1:p.Arg206Gly
ENST00000638836.1:n.526C>G
ENST00000639055.1:n.1337C>G
ENST00000639251.1:n.517C>G
ENST00000639268.1:c.251C>G
ENST00000639341.1:c.141C>G
ENST00000639770.1:c.654C>G	ENSP00000491999.1:n.654C>G
ENST00000640390.1:n.546C>G
ENST00000640560.1:n.392C>G
ENST00000640893.1:c.*14C>G	ENSP00000492677.1:n.*14C>G
ENST00000262493.10:c.616C>G	ENSP00000262493.6:p.Arg206Gly
ENST00000262494.11:c.616C>G	ENSP00000262494.7:p.Arg206Gly
ENST00000568375.1:n.8C>G
NM_020988.2:c.616C>G	NP_066268.1:p.Arg206Gly
NM_138736.2:c.616C>G	NP_620073.2:p.Arg206Gly
XM_011523003.1:c.490C>G	XP_011521305.1:p.Arg164Gly
XM_011523003.3:c.490C>G	XP_011521305.1:p.Arg164Gly
NM_020988.3:c.616C>G MANE Select	NP_066268.1:p.Arg206Gly
NM_138736.3:c.616C>G	NP_620073.2:p.Arg206Gly