Canonical Allele Identifier: CA395952413

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370765A>T (hg19) ; chr16:g.56336853A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336853A>T , CM000678.2:g.56336853A>T	GRCh38
NC_000016.9:g.56370765A>T , CM000678.1:g.56370765A>T	GRCh37
NC_000016.8:g.54928266A>T	NCBI36
NG_042800.1:g.150515A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.716A>T	ENSP00000262494.7:p.Glu239Val
ENST00000262493.12:c.716A>T MANE Select	ENSP00000262493.6:p.Glu239Val
ENST00000262494.12:c.716A>T	ENSP00000262494.7:p.Glu239Val
ENST00000562316.6:c.383A>T	ENSP00000457238.2:p.Glu128Val
ENST00000564727.2:c.20A>T	ENSP00000454971.2:p.Glu7Val
ENST00000568375.2:c.108A>T
ENST00000638185.1:n.931A>T
ENST00000638210.1:n.1016A>T
ENST00000638705.1:c.716A>T	ENSP00000491223.1:p.Glu239Val
ENST00000638836.1:n.626A>T
ENST00000639055.1:n.1437A>T
ENST00000639251.1:n.617A>T
ENST00000639268.1:c.351A>T
ENST00000639341.1:c.241A>T
ENST00000639770.1:c.754A>T	ENSP00000491999.1:n.754A>T
ENST00000640390.1:n.646A>T
ENST00000640469.1:c.80A>T	ENSP00000491875.1:p.Glu27Val
ENST00000640560.1:n.492A>T
ENST00000640893.1:c.*114A>T	ENSP00000492677.1:n.*114A>T
ENST00000262493.10:c.716A>T	ENSP00000262493.6:p.Glu239Val
ENST00000262494.11:c.716A>T	ENSP00000262494.7:p.Glu239Val
ENST00000568375.1:n.108A>T
NM_020988.2:c.716A>T	NP_066268.1:p.Glu239Val
NM_138736.2:c.716A>T	NP_620073.2:p.Glu239Val
XM_011523003.1:c.590A>T	XP_011521305.1:p.Glu197Val
XM_011523003.3:c.590A>T	XP_011521305.1:p.Glu197Val
NM_020988.3:c.716A>T MANE Select	NP_066268.1:p.Glu239Val
NM_138736.3:c.716A>T	NP_620073.2:p.Glu239Val