Canonical Allele Identifier: CA395954606

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1685336
• ClinVar RCV Id: RCV002249063
• dbSNP Id: rs1114167431
• MyVariant Identifiers: chr16:g.56385309A>T (hg19) ; chr16:g.56351397A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351397A>T , CM000678.2:g.56351397A>T	GRCh38
NC_000016.9:g.56385309A>T , CM000678.1:g.56385309A>T	GRCh37
NC_000016.8:g.54942810A>T	NCBI36
NG_042800.1:g.165059A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.737A>T MANE Select	ENSP00000262493.6:p.Glu246Val
ENST00000562316.6:c.404A>T	ENSP00000457238.2:p.Glu135Val
ENST00000564727.2:c.41A>T	ENSP00000454971.2:p.Glu14Val
ENST00000568375.2:c.116-3469A>T
ENST00000638185.1:n.952A>T
ENST00000638210.1:n.1037A>T
ENST00000638705.1:c.737A>T	ENSP00000491223.1:p.Glu246Val
ENST00000638836.1:n.647A>T
ENST00000639055.1:n.1458A>T
ENST00000639251.1:n.638A>T
ENST00000639268.1:c.372A>T
ENST00000639341.1:c.262A>T
ENST00000639770.1:c.775A>T	ENSP00000491999.1:n.775A>T
ENST00000640390.1:n.667A>T
ENST00000640469.1:c.101A>T	ENSP00000491875.1:p.Glu34Val
ENST00000640560.1:n.513A>T
ENST00000640893.1:c.*135A>T	ENSP00000492677.1:n.*135A>T
ENST00000262493.10:c.737A>T	ENSP00000262493.6:p.Glu246Val
ENST00000568375.1:n.116-3469A>T
NM_020988.2:c.737A>T	NP_066268.1:p.Glu246Val
XM_011523003.1:c.611A>T	XP_011521305.1:p.Glu204Val
XM_011523003.3:c.611A>T	XP_011521305.1:p.Glu204Val
NM_020988.3:c.737A>T MANE Select	NP_066268.1:p.Glu246Val