Canonical Allele Identifier: CA8063834

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1084834
• ClinVar RCV Id: RCV001402018
• dbSNP Id: rs752775959
• ExAC: 16:56370763 C / T
• gnomAD v2: 16-56370763-C-T
• gnomAD v3: 16-56336851-C-T
• gnomAD v4: 16-56336851-C-T
• COSMIC: COSM379104 ; COSM379105
• MyVariant Identifiers: chr16:g.56370763C>T (hg19) ; chr16:g.56336851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336851C>T , CM000678.2:g.56336851C>T	GRCh38
NC_000016.9:g.56370763C>T , CM000678.1:g.56370763C>T	GRCh37
NC_000016.8:g.54928264C>T	NCBI36
NG_042800.1:g.150513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.714C>T	ENSP00000262494.7:p.Asp238=
ENST00000262493.12:c.714C>T MANE Select	ENSP00000262493.6:p.Asp238=
ENST00000262494.12:c.714C>T	ENSP00000262494.7:p.Asp238=
ENST00000562316.6:c.381C>T	ENSP00000457238.2:p.Asp127=
ENST00000564727.2:c.18C>T	ENSP00000454971.2:p.Asp6=
ENST00000568375.2:c.106C>T
ENST00000638185.1:n.929C>T
ENST00000638210.1:n.1014C>T
ENST00000638705.1:c.714C>T	ENSP00000491223.1:p.Asp238=
ENST00000638836.1:n.624C>T
ENST00000639055.1:n.1435C>T
ENST00000639251.1:n.615C>T
ENST00000639268.1:c.349C>T
ENST00000639341.1:c.239C>T
ENST00000639770.1:c.752C>T	ENSP00000491999.1:n.752C>T
ENST00000640390.1:n.644C>T
ENST00000640469.1:c.78C>T	ENSP00000491875.1:p.Asp26=
ENST00000640560.1:n.490C>T
ENST00000640893.1:c.*112C>T	ENSP00000492677.1:n.*112C>T
ENST00000262493.10:c.714C>T	ENSP00000262493.6:p.Asp238=
ENST00000262494.11:c.714C>T	ENSP00000262494.7:p.Asp238=
ENST00000568375.1:n.106C>T
NM_020988.2:c.714C>T	NP_066268.1:p.Asp238=
NM_138736.2:c.714C>T	NP_620073.2:p.Asp238=
XM_011523003.1:c.588C>T	XP_011521305.1:p.Asp196=
XM_011523003.3:c.588C>T	XP_011521305.1:p.Asp196=
NM_020988.3:c.714C>T MANE Select	NP_066268.1:p.Asp238=
NM_138736.3:c.714C>T	NP_620073.2:p.Asp238=