Canonical Allele Identifier: CA395952190

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370671G>A (hg19) ; chr16:g.56336759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336759G>A , CM000678.2:g.56336759G>A	GRCh38
NC_000016.9:g.56370671G>A , CM000678.1:g.56370671G>A	GRCh37
NC_000016.8:g.54928172G>A	NCBI36
NG_042800.1:g.150421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.622G>A	ENSP00000262494.7:p.Glu208Lys
ENST00000262493.12:c.622G>A MANE Select	ENSP00000262493.6:p.Glu208Lys
ENST00000262494.12:c.622G>A	ENSP00000262494.7:p.Glu208Lys
ENST00000562316.6:c.289G>A	ENSP00000457238.2:p.Glu97Lys
ENST00000568375.2:c.14G>A
ENST00000638185.1:n.837G>A
ENST00000638210.1:n.922G>A
ENST00000638705.1:c.622G>A	ENSP00000491223.1:p.Glu208Lys
ENST00000638836.1:n.532G>A
ENST00000639055.1:n.1343G>A
ENST00000639251.1:n.523G>A
ENST00000639268.1:c.257G>A
ENST00000639341.1:c.147G>A
ENST00000639770.1:c.660G>A	ENSP00000491999.1:n.660G>A
ENST00000640390.1:n.552G>A
ENST00000640560.1:n.398G>A
ENST00000640893.1:c.*20G>A	ENSP00000492677.1:n.*20G>A
ENST00000262493.10:c.622G>A	ENSP00000262493.6:p.Glu208Lys
ENST00000262494.11:c.622G>A	ENSP00000262494.7:p.Glu208Lys
ENST00000568375.1:n.14G>A
NM_020988.2:c.622G>A	NP_066268.1:p.Glu208Lys
NM_138736.2:c.622G>A	NP_620073.2:p.Glu208Lys
XM_011523003.1:c.496G>A	XP_011521305.1:p.Glu166Lys
XM_011523003.3:c.496G>A	XP_011521305.1:p.Glu166Lys
NM_020988.3:c.622G>A MANE Select	NP_066268.1:p.Glu208Lys
NM_138736.3:c.622G>A	NP_620073.2:p.Glu208Lys