Canonical Allele Identifier: CA395951446

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2778366
• ClinVar RCV Id: RCV003753339
• MyVariant Identifiers: chr16:g.56368677C>A (hg19) ; chr16:g.56334765C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334765C>A , CM000678.2:g.56334765C>A	GRCh38
NC_000016.9:g.56368677C>A , CM000678.1:g.56368677C>A	GRCh37
NC_000016.8:g.54926178C>A	NCBI36
NG_042800.1:g.148427C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.501C>A	ENSP00000262494.7:p.Asp167Glu
ENST00000262493.12:c.501C>A MANE Select	ENSP00000262493.6:p.Asp167Glu
ENST00000262494.12:c.501C>A	ENSP00000262494.7:p.Asp167Glu
ENST00000562316.6:c.168C>A	ENSP00000457238.2:p.Asp56Glu
ENST00000638185.1:n.716C>A
ENST00000638210.1:n.801C>A
ENST00000638705.1:c.501C>A	ENSP00000491223.1:p.Asp167Glu
ENST00000638836.1:n.411C>A
ENST00000639055.1:n.1222C>A
ENST00000639251.1:n.402C>A
ENST00000639268.1:c.229-1966C>A
ENST00000639341.1:c.26C>A
ENST00000639770.1:c.539C>A	ENSP00000491999.1:n.539C>A
ENST00000640390.1:n.431C>A
ENST00000640893.1:c.340C>A	ENSP00000492677.1:p.Leu114Ile
ENST00000262493.10:c.501C>A	ENSP00000262493.6:p.Asp167Glu
ENST00000262494.11:c.501C>A	ENSP00000262494.7:p.Asp167Glu
ENST00000562316.5:c.240C>A	ENSP00000457238.1:p.Asp80Glu
ENST00000563440.1:c.240C>A	ENSP00000455774.1:p.Asp80Glu
ENST00000565363.5:c.375C>A	ENSP00000454728.1:p.Asp125Glu
NM_020988.2:c.501C>A	NP_066268.1:p.Asp167Glu
NM_138736.2:c.501C>A	NP_620073.2:p.Asp167Glu
XM_011523003.1:c.375C>A	XP_011521305.1:p.Asp125Glu
XM_011523003.3:c.375C>A	XP_011521305.1:p.Asp125Glu
NM_020988.3:c.501C>A MANE Select	NP_066268.1:p.Asp167Glu
NM_138736.3:c.501C>A	NP_620073.2:p.Asp167Glu