Canonical Allele Identifier: CA395954923

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2879153
• ClinVar RCV Id: RCV003752854
• gnomAD v4: 16-56351530-A-T
• MyVariant Identifiers: chr16:g.56385442A>T (hg19) ; chr16:g.56351530A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351530A>T , CM000678.2:g.56351530A>T	GRCh38
NC_000016.9:g.56385442A>T , CM000678.1:g.56385442A>T	GRCh37
NC_000016.8:g.54942943A>T	NCBI36
NG_042800.1:g.165192A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.870A>T MANE Select	ENSP00000262493.6:p.Glu290Asp
ENST00000562316.6:c.537A>T	ENSP00000457238.2:p.Glu179Asp
ENST00000564727.2:c.174A>T	ENSP00000454971.2:p.Glu58Asp
ENST00000568375.2:c.116-3336A>T
ENST00000638185.1:n.1085A>T
ENST00000638210.1:n.1170A>T
ENST00000638705.1:c.870A>T	ENSP00000491223.1:p.Glu290Asp
ENST00000638836.1:n.780A>T
ENST00000639055.1:n.1591A>T
ENST00000639251.1:n.771A>T
ENST00000639268.1:c.505A>T
ENST00000639341.1:c.395A>T
ENST00000639770.1:c.908A>T	ENSP00000491999.1:n.908A>T
ENST00000640390.1:n.800A>T
ENST00000640469.1:c.234A>T	ENSP00000491875.1:p.Glu78Asp
ENST00000640560.1:n.646A>T
ENST00000640893.1:c.*268A>T	ENSP00000492677.1:n.*268A>T
ENST00000262493.10:c.870A>T	ENSP00000262493.6:p.Glu290Asp
ENST00000564727.1:c.90A>T	ENSP00000454971.1:p.Glu30Asp
ENST00000568375.1:n.116-3336A>T
NM_020988.2:c.870A>T	NP_066268.1:p.Glu290Asp
XM_011523003.1:c.744A>T	XP_011521305.1:p.Glu248Asp
XM_011523003.3:c.744A>T	XP_011521305.1:p.Glu248Asp
NM_020988.3:c.870A>T MANE Select	NP_066268.1:p.Glu290Asp