Canonical Allele Identifier: CA395954919

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385441A>C (hg19) ; chr16:g.56351529A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351529A>C , CM000678.2:g.56351529A>C	GRCh38
NC_000016.9:g.56385441A>C , CM000678.1:g.56385441A>C	GRCh37
NC_000016.8:g.54942942A>C	NCBI36
NG_042800.1:g.165191A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.869A>C MANE Select	ENSP00000262493.6:p.Glu290Ala
ENST00000562316.6:c.536A>C	ENSP00000457238.2:p.Glu179Ala
ENST00000564727.2:c.173A>C	ENSP00000454971.2:p.Glu58Ala
ENST00000568375.2:c.116-3337A>C
ENST00000638185.1:n.1084A>C
ENST00000638210.1:n.1169A>C
ENST00000638705.1:c.869A>C	ENSP00000491223.1:p.Glu290Ala
ENST00000638836.1:n.779A>C
ENST00000639055.1:n.1590A>C
ENST00000639251.1:n.770A>C
ENST00000639268.1:c.504A>C
ENST00000639341.1:c.394A>C
ENST00000639770.1:c.907A>C	ENSP00000491999.1:n.907A>C
ENST00000640390.1:n.799A>C
ENST00000640469.1:c.233A>C	ENSP00000491875.1:p.Glu78Ala
ENST00000640560.1:n.645A>C
ENST00000640893.1:c.*267A>C	ENSP00000492677.1:n.*267A>C
ENST00000262493.10:c.869A>C	ENSP00000262493.6:p.Glu290Ala
ENST00000564727.1:c.89A>C	ENSP00000454971.1:p.Glu30Ala
ENST00000568375.1:n.116-3337A>C
NM_020988.2:c.869A>C	NP_066268.1:p.Glu290Ala
XM_011523003.1:c.743A>C	XP_011521305.1:p.Glu248Ala
XM_011523003.3:c.743A>C	XP_011521305.1:p.Glu248Ala
NM_020988.3:c.869A>C MANE Select	NP_066268.1:p.Glu290Ala