Canonical Allele Identifier: CA395955122

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388852G>A (hg19) ; chr16:g.56354940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354940G>A , CM000678.2:g.56354940G>A	GRCh38
NC_000016.9:g.56388852G>A , CM000678.1:g.56388852G>A	GRCh37
NC_000016.8:g.54946353G>A	NCBI36
NG_042800.1:g.168602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.952G>A MANE Select	ENSP00000262493.6:p.Glu318Lys
ENST00000562316.6:c.545-1163G>A	ENSP00000457238.2:n.545-1163G>A
ENST00000564727.2:c.256G>A	ENSP00000454971.2:p.Glu86Lys
ENST00000568375.2:c.190G>A
ENST00000638210.1:n.1252G>A
ENST00000638705.1:c.952G>A	ENSP00000491223.1:p.Glu318Lys
ENST00000638836.1:n.862G>A
ENST00000639251.1:n.853G>A
ENST00000639268.1:c.587G>A
ENST00000639341.1:c.477G>A
ENST00000639770.1:c.990G>A	ENSP00000491999.1:n.990G>A
ENST00000640390.1:n.882G>A
ENST00000640469.1:c.316G>A	ENSP00000491875.1:p.Glu106Lys
ENST00000640560.1:n.728G>A
ENST00000640893.1:c.*350G>A	ENSP00000492677.1:n.*350G>A
ENST00000262493.10:c.952G>A	ENSP00000262493.6:p.Glu318Lys
ENST00000564727.1:c.172G>A	ENSP00000454971.1:p.Glu58Lys
ENST00000568375.1:n.190G>A
NM_020988.2:c.952G>A	NP_066268.1:p.Glu318Lys
XM_011523003.1:c.826G>A	XP_011521305.1:p.Glu276Lys
XM_011523003.3:c.826G>A	XP_011521305.1:p.Glu276Lys
NM_020988.3:c.952G>A MANE Select	NP_066268.1:p.Glu318Lys