Canonical Allele Identifier: CA395954848

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385410A>C (hg19) ; chr16:g.56351498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351498A>C , CM000678.2:g.56351498A>C	GRCh38
NC_000016.9:g.56385410A>C , CM000678.1:g.56385410A>C	GRCh37
NC_000016.8:g.54942911A>C	NCBI36
NG_042800.1:g.165160A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.838A>C MANE Select	ENSP00000262493.6:p.Lys280Gln
ENST00000562316.6:c.505A>C	ENSP00000457238.2:p.Lys169Gln
ENST00000564727.2:c.142A>C	ENSP00000454971.2:p.Lys48Gln
ENST00000568375.2:c.116-3368A>C
ENST00000638185.1:n.1053A>C
ENST00000638210.1:n.1138A>C
ENST00000638705.1:c.838A>C	ENSP00000491223.1:p.Lys280Gln
ENST00000638836.1:n.748A>C
ENST00000639055.1:n.1559A>C
ENST00000639251.1:n.739A>C
ENST00000639268.1:c.473A>C
ENST00000639341.1:c.363A>C
ENST00000639770.1:c.876A>C	ENSP00000491999.1:n.876A>C
ENST00000640390.1:n.768A>C
ENST00000640469.1:c.202A>C	ENSP00000491875.1:p.Lys68Gln
ENST00000640560.1:n.614A>C
ENST00000640893.1:c.*236A>C	ENSP00000492677.1:n.*236A>C
ENST00000262493.10:c.838A>C	ENSP00000262493.6:p.Lys280Gln
ENST00000564727.1:c.58A>C	ENSP00000454971.1:p.Lys20Gln
ENST00000568375.1:n.116-3368A>C
NM_020988.2:c.838A>C	NP_066268.1:p.Lys280Gln
XM_011523003.1:c.712A>C	XP_011521305.1:p.Lys238Gln
XM_011523003.3:c.712A>C	XP_011521305.1:p.Lys238Gln
NM_020988.3:c.838A>C MANE Select	NP_066268.1:p.Lys280Gln