Canonical Allele Identifier: CA395954859

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1932332
• ClinVar RCV Id: RCV002622511
• MyVariant Identifiers: chr16:g.56385414A>C (hg19) ; chr16:g.56351502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351502A>C , CM000678.2:g.56351502A>C	GRCh38
NC_000016.9:g.56385414A>C , CM000678.1:g.56385414A>C	GRCh37
NC_000016.8:g.54942915A>C	NCBI36
NG_042800.1:g.165164A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.842A>C MANE Select	ENSP00000262493.6:p.Lys281Thr
ENST00000562316.6:c.509A>C	ENSP00000457238.2:p.Lys170Thr
ENST00000564727.2:c.146A>C	ENSP00000454971.2:p.Lys49Thr
ENST00000568375.2:c.116-3364A>C
ENST00000638185.1:n.1057A>C
ENST00000638210.1:n.1142A>C
ENST00000638705.1:c.842A>C	ENSP00000491223.1:p.Lys281Thr
ENST00000638836.1:n.752A>C
ENST00000639055.1:n.1563A>C
ENST00000639251.1:n.743A>C
ENST00000639268.1:c.477A>C
ENST00000639341.1:c.367A>C
ENST00000639770.1:c.880A>C	ENSP00000491999.1:n.880A>C
ENST00000640390.1:n.772A>C
ENST00000640469.1:c.206A>C	ENSP00000491875.1:p.Lys69Thr
ENST00000640560.1:n.618A>C
ENST00000640893.1:c.*240A>C	ENSP00000492677.1:n.*240A>C
ENST00000262493.10:c.842A>C	ENSP00000262493.6:p.Lys281Thr
ENST00000564727.1:c.62A>C	ENSP00000454971.1:p.Lys21Thr
ENST00000568375.1:n.116-3364A>C
NM_020988.2:c.842A>C	NP_066268.1:p.Lys281Thr
XM_011523003.1:c.716A>C	XP_011521305.1:p.Lys239Thr
XM_011523003.3:c.716A>C	XP_011521305.1:p.Lys239Thr
NM_020988.3:c.842A>C MANE Select	NP_066268.1:p.Lys281Thr