Canonical Allele Identifier: CA395954852

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385411A>T (hg19) ; chr16:g.56351499A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351499A>T , CM000678.2:g.56351499A>T	GRCh38
NC_000016.9:g.56385411A>T , CM000678.1:g.56385411A>T	GRCh37
NC_000016.8:g.54942912A>T	NCBI36
NG_042800.1:g.165161A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.839A>T MANE Select	ENSP00000262493.6:p.Lys280Met
ENST00000562316.6:c.506A>T	ENSP00000457238.2:p.Lys169Met
ENST00000564727.2:c.143A>T	ENSP00000454971.2:p.Lys48Met
ENST00000568375.2:c.116-3367A>T
ENST00000638185.1:n.1054A>T
ENST00000638210.1:n.1139A>T
ENST00000638705.1:c.839A>T	ENSP00000491223.1:p.Lys280Met
ENST00000638836.1:n.749A>T
ENST00000639055.1:n.1560A>T
ENST00000639251.1:n.740A>T
ENST00000639268.1:c.474A>T
ENST00000639341.1:c.364A>T
ENST00000639770.1:c.877A>T	ENSP00000491999.1:n.877A>T
ENST00000640390.1:n.769A>T
ENST00000640469.1:c.203A>T	ENSP00000491875.1:p.Lys68Met
ENST00000640560.1:n.615A>T
ENST00000640893.1:c.*237A>T	ENSP00000492677.1:n.*237A>T
ENST00000262493.10:c.839A>T	ENSP00000262493.6:p.Lys280Met
ENST00000564727.1:c.59A>T	ENSP00000454971.1:p.Lys20Met
ENST00000568375.1:n.116-3367A>T
NM_020988.2:c.839A>T	NP_066268.1:p.Lys280Met
XM_011523003.1:c.713A>T	XP_011521305.1:p.Lys238Met
XM_011523003.3:c.713A>T	XP_011521305.1:p.Lys238Met
NM_020988.3:c.839A>T MANE Select	NP_066268.1:p.Lys280Met