Canonical Allele Identifier: CA395954917

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385440G>C (hg19) ; chr16:g.56351528G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351528G>C , CM000678.2:g.56351528G>C	GRCh38
NC_000016.9:g.56385440G>C , CM000678.1:g.56385440G>C	GRCh37
NC_000016.8:g.54942941G>C	NCBI36
NG_042800.1:g.165190G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.868G>C MANE Select	ENSP00000262493.6:p.Glu290Gln
ENST00000562316.6:c.535G>C	ENSP00000457238.2:p.Glu179Gln
ENST00000564727.2:c.172G>C	ENSP00000454971.2:p.Glu58Gln
ENST00000568375.2:c.116-3338G>C
ENST00000638185.1:n.1083G>C
ENST00000638210.1:n.1168G>C
ENST00000638705.1:c.868G>C	ENSP00000491223.1:p.Glu290Gln
ENST00000638836.1:n.778G>C
ENST00000639055.1:n.1589G>C
ENST00000639251.1:n.769G>C
ENST00000639268.1:c.503G>C
ENST00000639341.1:c.393G>C
ENST00000639770.1:c.906G>C	ENSP00000491999.1:n.906G>C
ENST00000640390.1:n.798G>C
ENST00000640469.1:c.232G>C	ENSP00000491875.1:p.Glu78Gln
ENST00000640560.1:n.644G>C
ENST00000640893.1:c.*266G>C	ENSP00000492677.1:n.*266G>C
ENST00000262493.10:c.868G>C	ENSP00000262493.6:p.Glu290Gln
ENST00000564727.1:c.88G>C	ENSP00000454971.1:p.Glu30Gln
ENST00000568375.1:n.116-3338G>C
NM_020988.2:c.868G>C	NP_066268.1:p.Glu290Gln
XM_011523003.1:c.742G>C	XP_011521305.1:p.Glu248Gln
XM_011523003.3:c.742G>C	XP_011521305.1:p.Glu248Gln
NM_020988.3:c.868G>C MANE Select	NP_066268.1:p.Glu290Gln