Canonical Allele Identifier: CA395954921

Gene: GNAO1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.869A>T MANE Select	ENSP00000262493.6:p.Glu290Val
ENST00000562316.6:c.536A>T	ENSP00000457238.2:p.Glu179Val
ENST00000564727.2:c.173A>T	ENSP00000454971.2:p.Glu58Val
ENST00000568375.2:c.116-3337A>T
ENST00000638185.1:n.1084A>T
ENST00000638210.1:n.1169A>T
ENST00000638705.1:c.869A>T	ENSP00000491223.1:p.Glu290Val
ENST00000638836.1:n.779A>T
ENST00000639055.1:n.1590A>T
ENST00000639251.1:n.770A>T
ENST00000639268.1:c.504A>T
ENST00000639341.1:c.394A>T
ENST00000639770.1:c.907A>T	ENSP00000491999.1:n.907A>T
ENST00000640390.1:n.799A>T
ENST00000640469.1:c.233A>T	ENSP00000491875.1:p.Glu78Val
ENST00000640560.1:n.645A>T
ENST00000640893.1:c.*267A>T	ENSP00000492677.1:n.*267A>T
ENST00000262493.10:c.869A>T	ENSP00000262493.6:p.Glu290Val
ENST00000564727.1:c.89A>T	ENSP00000454971.1:p.Glu30Val
ENST00000568375.1:n.116-3337A>T
NM_020988.2:c.869A>T	NP_066268.1:p.Glu290Val
XM_011523003.1:c.743A>T	XP_011521305.1:p.Glu248Val
XM_011523003.3:c.743A>T	XP_011521305.1:p.Glu248Val
NM_020988.3:c.869A>T MANE Select	NP_066268.1:p.Glu290Val