Canonical Allele Identifier: CA395951483

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368693C>G (hg19) ; chr16:g.56334781C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334781C>G , CM000678.2:g.56334781C>G	GRCh38
NC_000016.9:g.56368693C>G , CM000678.1:g.56368693C>G	GRCh37
NC_000016.8:g.54926194C>G	NCBI36
NG_042800.1:g.148443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.517C>G	ENSP00000262494.7:p.Gln173Glu
ENST00000262493.12:c.517C>G MANE Select	ENSP00000262493.6:p.Gln173Glu
ENST00000262494.12:c.517C>G	ENSP00000262494.7:p.Gln173Glu
ENST00000562316.6:c.184C>G	ENSP00000457238.2:p.Gln62Glu
ENST00000638185.1:n.732C>G
ENST00000638210.1:n.817C>G
ENST00000638705.1:c.517C>G	ENSP00000491223.1:p.Gln173Glu
ENST00000638836.1:n.427C>G
ENST00000639055.1:n.1238C>G
ENST00000639251.1:n.418C>G
ENST00000639268.1:c.229-1950C>G
ENST00000639341.1:c.42C>G
ENST00000639770.1:c.555C>G	ENSP00000491999.1:n.555C>G
ENST00000640390.1:n.447C>G
ENST00000640893.1:c.356C>G	ENSP00000492677.1:p.Ala119Gly
ENST00000262493.10:c.517C>G	ENSP00000262493.6:p.Gln173Glu
ENST00000262494.11:c.517C>G	ENSP00000262494.7:p.Gln173Glu
ENST00000562316.5:c.256C>G	ENSP00000457238.1:p.Gln86Glu
NM_020988.2:c.517C>G	NP_066268.1:p.Gln173Glu
NM_138736.2:c.517C>G	NP_620073.2:p.Gln173Glu
XM_011523003.1:c.391C>G	XP_011521305.1:p.Gln131Glu
XM_011523003.3:c.391C>G	XP_011521305.1:p.Gln131Glu
NM_020988.3:c.517C>G MANE Select	NP_066268.1:p.Gln173Glu
NM_138736.3:c.517C>G	NP_620073.2:p.Gln173Glu