Canonical Allele Identifier: CA395952258

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 432130
• ClinVar RCV Id: RCV000498979 ; RCV000806364
• dbSNP Id: rs1555507477
• COSMIC: COSM971643 ; COSM971644
• MyVariant Identifiers: chr16:g.56370698G>A (hg19) ; chr16:g.56336786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336786G>A , CM000678.2:g.56336786G>A	GRCh38
NC_000016.9:g.56370698G>A , CM000678.1:g.56370698G>A	GRCh37
NC_000016.8:g.54928199G>A	NCBI36
NG_042800.1:g.150448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.649G>A	ENSP00000262494.7:p.Glu217Lys
ENST00000262493.12:c.649G>A MANE Select	ENSP00000262493.6:p.Glu217Lys
ENST00000262494.12:c.649G>A	ENSP00000262494.7:p.Glu217Lys
ENST00000562316.6:c.316G>A	ENSP00000457238.2:p.Glu106Lys
ENST00000568375.2:c.41G>A
ENST00000638185.1:n.864G>A
ENST00000638210.1:n.949G>A
ENST00000638705.1:c.649G>A	ENSP00000491223.1:p.Glu217Lys
ENST00000638836.1:n.559G>A
ENST00000639055.1:n.1370G>A
ENST00000639251.1:n.550G>A
ENST00000639268.1:c.284G>A
ENST00000639341.1:c.174G>A
ENST00000639770.1:c.687G>A	ENSP00000491999.1:n.687G>A
ENST00000640390.1:n.579G>A
ENST00000640469.1:c.13G>A	ENSP00000491875.1:p.Glu5Lys
ENST00000640560.1:n.425G>A
ENST00000640893.1:c.*47G>A	ENSP00000492677.1:n.*47G>A
ENST00000262493.10:c.649G>A	ENSP00000262493.6:p.Glu217Lys
ENST00000262494.11:c.649G>A	ENSP00000262494.7:p.Glu217Lys
ENST00000568375.1:n.41G>A
NM_020988.2:c.649G>A	NP_066268.1:p.Glu217Lys
NM_138736.2:c.649G>A	NP_620073.2:p.Glu217Lys
XM_011523003.1:c.523G>A	XP_011521305.1:p.Glu175Lys
XM_011523003.3:c.523G>A	XP_011521305.1:p.Glu175Lys
NM_020988.3:c.649G>A MANE Select	NP_066268.1:p.Glu217Lys
NM_138736.3:c.649G>A	NP_620073.2:p.Glu217Lys