Canonical Allele Identifier: CA395954588

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 870180
• ClinVar RCV Id: RCV001089718
• dbSNP Id: rs2037919953
• MyVariant Identifiers: chr16:g.56385303T>A (hg19) ; chr16:g.56351391T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351391T>A , CM000678.2:g.56351391T>A	GRCh38
NC_000016.9:g.56385303T>A , CM000678.1:g.56385303T>A	GRCh37
NC_000016.8:g.54942804T>A	NCBI36
NG_042800.1:g.165053T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.731T>A MANE Select	ENSP00000262493.6:p.Met244Lys
ENST00000562316.6:c.398T>A	ENSP00000457238.2:p.Met133Lys
ENST00000564727.2:c.35T>A	ENSP00000454971.2:p.Met12Lys
ENST00000568375.2:c.116-3475T>A
ENST00000638185.1:n.946T>A
ENST00000638210.1:n.1031T>A
ENST00000638705.1:c.731T>A	ENSP00000491223.1:p.Met244Lys
ENST00000638836.1:n.641T>A
ENST00000639055.1:n.1452T>A
ENST00000639251.1:n.632T>A
ENST00000639268.1:c.366T>A
ENST00000639341.1:c.256T>A
ENST00000639770.1:c.769T>A	ENSP00000491999.1:n.769T>A
ENST00000640390.1:n.661T>A
ENST00000640469.1:c.95T>A	ENSP00000491875.1:p.Met32Lys
ENST00000640560.1:n.507T>A
ENST00000640893.1:c.*129T>A	ENSP00000492677.1:n.*129T>A
ENST00000262493.10:c.731T>A	ENSP00000262493.6:p.Met244Lys
ENST00000568375.1:n.116-3475T>A
NM_020988.2:c.731T>A	NP_066268.1:p.Met244Lys
XM_011523003.1:c.605T>A	XP_011521305.1:p.Met202Lys
XM_011523003.3:c.605T>A	XP_011521305.1:p.Met202Lys
NM_020988.3:c.731T>A MANE Select	NP_066268.1:p.Met244Lys