Canonical Allele Identifier: CA395954691

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385344A>G (hg19) ; chr16:g.56351432A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351432A>G , CM000678.2:g.56351432A>G	GRCh38
NC_000016.9:g.56385344A>G , CM000678.1:g.56385344A>G	GRCh37
NC_000016.8:g.54942845A>G	NCBI36
NG_042800.1:g.165094A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.772A>G MANE Select	ENSP00000262493.6:p.Lys258Glu
ENST00000562316.6:c.439A>G	ENSP00000457238.2:p.Lys147Glu
ENST00000564727.2:c.76A>G	ENSP00000454971.2:p.Lys26Glu
ENST00000568375.2:c.116-3434A>G
ENST00000638185.1:n.987A>G
ENST00000638210.1:n.1072A>G
ENST00000638705.1:c.772A>G	ENSP00000491223.1:p.Lys258Glu
ENST00000638836.1:n.682A>G
ENST00000639055.1:n.1493A>G
ENST00000639251.1:n.673A>G
ENST00000639268.1:c.407A>G
ENST00000639341.1:c.297A>G
ENST00000639770.1:c.810A>G	ENSP00000491999.1:n.810A>G
ENST00000640390.1:n.702A>G
ENST00000640469.1:c.136A>G	ENSP00000491875.1:p.Lys46Glu
ENST00000640560.1:n.548A>G
ENST00000640893.1:c.*170A>G	ENSP00000492677.1:n.*170A>G
ENST00000262493.10:c.772A>G	ENSP00000262493.6:p.Lys258Glu
ENST00000568375.1:n.116-3434A>G
NM_020988.2:c.772A>G	NP_066268.1:p.Lys258Glu
XM_011523003.1:c.646A>G	XP_011521305.1:p.Lys216Glu
XM_011523003.3:c.646A>G	XP_011521305.1:p.Lys216Glu
NM_020988.3:c.772A>G MANE Select	NP_066268.1:p.Lys258Glu