Canonical Allele Identifier: CA395952331

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370729C>G (hg19) ; chr16:g.56336817C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336817C>G , CM000678.2:g.56336817C>G	GRCh38
NC_000016.9:g.56370729C>G , CM000678.1:g.56370729C>G	GRCh37
NC_000016.8:g.54928230C>G	NCBI36
NG_042800.1:g.150479C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.680C>G	ENSP00000262494.7:p.Ala227Gly
ENST00000262493.12:c.680C>G MANE Select	ENSP00000262493.6:p.Ala227Gly
ENST00000262494.12:c.680C>G	ENSP00000262494.7:p.Ala227Gly
ENST00000562316.6:c.347C>G	ENSP00000457238.2:p.Ala116Gly
ENST00000568375.2:c.72C>G
ENST00000638185.1:n.895C>G
ENST00000638210.1:n.980C>G
ENST00000638705.1:c.680C>G	ENSP00000491223.1:p.Ala227Gly
ENST00000638836.1:n.590C>G
ENST00000639055.1:n.1401C>G
ENST00000639251.1:n.581C>G
ENST00000639268.1:c.315C>G
ENST00000639341.1:c.205C>G
ENST00000639770.1:c.718C>G	ENSP00000491999.1:n.718C>G
ENST00000640390.1:n.610C>G
ENST00000640469.1:c.44C>G	ENSP00000491875.1:p.Ala15Gly
ENST00000640560.1:n.456C>G
ENST00000640893.1:c.*78C>G	ENSP00000492677.1:n.*78C>G
ENST00000262493.10:c.680C>G	ENSP00000262493.6:p.Ala227Gly
ENST00000262494.11:c.680C>G	ENSP00000262494.7:p.Ala227Gly
ENST00000568375.1:n.72C>G
NM_020988.2:c.680C>G	NP_066268.1:p.Ala227Gly
NM_138736.2:c.680C>G	NP_620073.2:p.Ala227Gly
XM_011523003.1:c.554C>G	XP_011521305.1:p.Ala185Gly
XM_011523003.3:c.554C>G	XP_011521305.1:p.Ala185Gly
NM_020988.3:c.680C>G MANE Select	NP_066268.1:p.Ala227Gly
NM_138736.3:c.680C>G	NP_620073.2:p.Ala227Gly