Canonical Allele Identifier: CA395954831

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385402A>T (hg19) ; chr16:g.56351490A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351490A>T , CM000678.2:g.56351490A>T	GRCh38
NC_000016.9:g.56385402A>T , CM000678.1:g.56385402A>T	GRCh37
NC_000016.8:g.54942903A>T	NCBI36
NG_042800.1:g.165152A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.830A>T MANE Select	ENSP00000262493.6:p.Glu277Val
ENST00000562316.6:c.497A>T	ENSP00000457238.2:p.Glu166Val
ENST00000564727.2:c.134A>T	ENSP00000454971.2:p.Glu45Val
ENST00000568375.2:c.116-3376A>T
ENST00000638185.1:n.1045A>T
ENST00000638210.1:n.1130A>T
ENST00000638705.1:c.830A>T	ENSP00000491223.1:p.Glu277Val
ENST00000638836.1:n.740A>T
ENST00000639055.1:n.1551A>T
ENST00000639251.1:n.731A>T
ENST00000639268.1:c.465A>T
ENST00000639341.1:c.355A>T
ENST00000639770.1:c.868A>T	ENSP00000491999.1:n.868A>T
ENST00000640390.1:n.760A>T
ENST00000640469.1:c.194A>T	ENSP00000491875.1:p.Glu65Val
ENST00000640560.1:n.606A>T
ENST00000640893.1:c.*228A>T	ENSP00000492677.1:n.*228A>T
ENST00000262493.10:c.830A>T	ENSP00000262493.6:p.Glu277Val
ENST00000564727.1:c.50A>T	ENSP00000454971.1:p.Glu17Val
ENST00000568375.1:n.116-3376A>T
NM_020988.2:c.830A>T	NP_066268.1:p.Glu277Val
XM_011523003.1:c.704A>T	XP_011521305.1:p.Glu235Val
XM_011523003.3:c.704A>T	XP_011521305.1:p.Glu235Val
NM_020988.3:c.830A>T MANE Select	NP_066268.1:p.Glu277Val