Canonical Allele Identifier: CA395952288

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 522843
• ClinVar RCV Id: RCV000626015
• dbSNP Id: rs1555507479
• COSMIC: COSM5648212 ; COSM5648213
• MyVariant Identifiers: chr16:g.56370711C>A (hg19) ; chr16:g.56336799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336799C>A , CM000678.2:g.56336799C>A	GRCh38
NC_000016.9:g.56370711C>A , CM000678.1:g.56370711C>A	GRCh37
NC_000016.8:g.54928212C>A	NCBI36
NG_042800.1:g.150461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.662C>A	ENSP00000262494.7:p.Ala221Asp
ENST00000262493.12:c.662C>A MANE Select	ENSP00000262493.6:p.Ala221Asp
ENST00000262494.12:c.662C>A	ENSP00000262494.7:p.Ala221Asp
ENST00000562316.6:c.329C>A	ENSP00000457238.2:p.Ala110Asp
ENST00000568375.2:c.54C>A
ENST00000638185.1:n.877C>A
ENST00000638210.1:n.962C>A
ENST00000638705.1:c.662C>A	ENSP00000491223.1:p.Ala221Asp
ENST00000638836.1:n.572C>A
ENST00000639055.1:n.1383C>A
ENST00000639251.1:n.563C>A
ENST00000639268.1:c.297C>A
ENST00000639341.1:c.187C>A
ENST00000639770.1:c.700C>A	ENSP00000491999.1:n.700C>A
ENST00000640390.1:n.592C>A
ENST00000640469.1:c.26C>A	ENSP00000491875.1:p.Ala9Asp
ENST00000640560.1:n.438C>A
ENST00000640893.1:c.*60C>A	ENSP00000492677.1:n.*60C>A
ENST00000262493.10:c.662C>A	ENSP00000262493.6:p.Ala221Asp
ENST00000262494.11:c.662C>A	ENSP00000262494.7:p.Ala221Asp
ENST00000568375.1:n.54C>A
NM_020988.2:c.662C>A	NP_066268.1:p.Ala221Asp
NM_138736.2:c.662C>A	NP_620073.2:p.Ala221Asp
XM_011523003.1:c.536C>A	XP_011521305.1:p.Ala179Asp
XM_011523003.3:c.536C>A	XP_011521305.1:p.Ala179Asp
NM_020988.3:c.662C>A MANE Select	NP_066268.1:p.Ala221Asp
NM_138736.3:c.662C>A	NP_620073.2:p.Ala221Asp