Canonical Allele Identifier: CA395954837

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385405A>C (hg19) ; chr16:g.56351493A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351493A>C , CM000678.2:g.56351493A>C	GRCh38
NC_000016.9:g.56385405A>C , CM000678.1:g.56385405A>C	GRCh37
NC_000016.8:g.54942906A>C	NCBI36
NG_042800.1:g.165155A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.833A>C MANE Select	ENSP00000262493.6:p.Lys278Thr
ENST00000562316.6:c.500A>C	ENSP00000457238.2:p.Lys167Thr
ENST00000564727.2:c.137A>C	ENSP00000454971.2:p.Lys46Thr
ENST00000568375.2:c.116-3373A>C
ENST00000638185.1:n.1048A>C
ENST00000638210.1:n.1133A>C
ENST00000638705.1:c.833A>C	ENSP00000491223.1:p.Lys278Thr
ENST00000638836.1:n.743A>C
ENST00000639055.1:n.1554A>C
ENST00000639251.1:n.734A>C
ENST00000639268.1:c.468A>C
ENST00000639341.1:c.358A>C
ENST00000639770.1:c.871A>C	ENSP00000491999.1:n.871A>C
ENST00000640390.1:n.763A>C
ENST00000640469.1:c.197A>C	ENSP00000491875.1:p.Lys66Thr
ENST00000640560.1:n.609A>C
ENST00000640893.1:c.*231A>C	ENSP00000492677.1:n.*231A>C
ENST00000262493.10:c.833A>C	ENSP00000262493.6:p.Lys278Thr
ENST00000564727.1:c.53A>C	ENSP00000454971.1:p.Lys18Thr
ENST00000568375.1:n.116-3373A>C
NM_020988.2:c.833A>C	NP_066268.1:p.Lys278Thr
XM_011523003.1:c.707A>C	XP_011521305.1:p.Lys236Thr
XM_011523003.3:c.707A>C	XP_011521305.1:p.Lys236Thr
NM_020988.3:c.833A>C MANE Select	NP_066268.1:p.Lys278Thr