Canonical Allele Identifier: CA395955415

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1358460
• ClinVar RCV Id: RCV001904169 ; RCV003229063
• dbSNP Id: rs2143705059
• COSMIC: COSM1378459
• MyVariant Identifiers: chr16:g.56388945C>T (hg19) ; chr16:g.56355033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355033C>T , CM000678.2:g.56355033C>T	GRCh38
NC_000016.9:g.56388945C>T , CM000678.1:g.56388945C>T	GRCh37
NC_000016.8:g.54946446C>T	NCBI36
NG_042800.1:g.168695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1045C>T MANE Select	ENSP00000262493.6:p.Arg349Trp
ENST00000562316.6:c.545-1070C>T	ENSP00000457238.2:n.545-1070C>T
ENST00000564727.2:c.303+46C>T	ENSP00000454971.2:n.303+46C>T
ENST00000568375.2:c.283C>T
ENST00000638210.1:n.1345C>T
ENST00000638705.1:c.1045C>T	ENSP00000491223.1:p.Arg349Trp
ENST00000638836.1:n.955C>T
ENST00000639251.1:n.946C>T
ENST00000639268.1:c.680C>T
ENST00000639341.1:c.570C>T
ENST00000639770.1:c.1083C>T	ENSP00000491999.1:n.1083C>T
ENST00000640390.1:n.975C>T
ENST00000640469.1:c.409C>T	ENSP00000491875.1:p.Arg137Trp
ENST00000640560.1:n.821C>T
ENST00000640893.1:c.*443C>T	ENSP00000492677.1:n.*443C>T
ENST00000262493.10:c.1045C>T	ENSP00000262493.6:p.Arg349Trp
ENST00000564727.1:c.265C>T	ENSP00000454971.1:p.Arg89Trp
ENST00000568375.1:n.283C>T
NM_020988.2:c.1045C>T	NP_066268.1:p.Arg349Trp
XM_011523003.1:c.919C>T	XP_011521305.1:p.Arg307Trp
XM_011523003.3:c.919C>T	XP_011521305.1:p.Arg307Trp
NM_020988.3:c.1045C>T MANE Select	NP_066268.1:p.Arg349Trp