Canonical Allele Identifier: CA2697555829

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2745079
• ClinVar RCV Id: RCV003589293

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351503G>A , CM000678.2:g.56351503G>A	GRCh38
NC_000016.9:g.56385415G>A , CM000678.1:g.56385415G>A	GRCh37
NC_000016.8:g.54942916G>A	NCBI36
NG_042800.1:g.165165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.843G>A MANE Select	ENSP00000262493.6:p.Lys281=
ENST00000562316.6:c.510G>A	ENSP00000457238.2:p.Lys170=
ENST00000564727.2:c.147G>A	ENSP00000454971.2:p.Lys49=
ENST00000568375.2:c.116-3363G>A
ENST00000638185.1:n.1058G>A
ENST00000638210.1:n.1143G>A
ENST00000638705.1:c.843G>A	ENSP00000491223.1:p.Lys281=
ENST00000638836.1:n.753G>A
ENST00000639055.1:n.1564G>A
ENST00000639251.1:n.744G>A
ENST00000639268.1:c.478G>A
ENST00000639341.1:c.368G>A
ENST00000639770.1:c.881G>A	ENSP00000491999.1:n.881G>A
ENST00000640390.1:n.773G>A
ENST00000640469.1:c.207G>A	ENSP00000491875.1:p.Lys69=
ENST00000640560.1:n.619G>A
ENST00000640893.1:c.*241G>A	ENSP00000492677.1:n.*241G>A
ENST00000262493.10:c.843G>A	ENSP00000262493.6:p.Lys281=
ENST00000564727.1:c.63G>A	ENSP00000454971.1:p.Lys21=
ENST00000568375.1:n.116-3363G>A
NM_020988.2:c.843G>A	NP_066268.1:p.Lys281=
XM_011523003.1:c.717G>A	XP_011521305.1:p.Lys239=
XM_011523003.3:c.717G>A	XP_011521305.1:p.Lys239=
NM_020988.3:c.843G>A MANE Select	NP_066268.1:p.Lys281=