Canonical Allele Identifier: CA395952195

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370672A>T (hg19) ; chr16:g.56336760A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336760A>T , CM000678.2:g.56336760A>T	GRCh38
NC_000016.9:g.56370672A>T , CM000678.1:g.56370672A>T	GRCh37
NC_000016.8:g.54928173A>T	NCBI36
NG_042800.1:g.150422A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.623A>T	ENSP00000262494.7:p.Glu208Val
ENST00000262493.12:c.623A>T MANE Select	ENSP00000262493.6:p.Glu208Val
ENST00000262494.12:c.623A>T	ENSP00000262494.7:p.Glu208Val
ENST00000562316.6:c.290A>T	ENSP00000457238.2:p.Glu97Val
ENST00000568375.2:c.15A>T
ENST00000638185.1:n.838A>T
ENST00000638210.1:n.923A>T
ENST00000638705.1:c.623A>T	ENSP00000491223.1:p.Glu208Val
ENST00000638836.1:n.533A>T
ENST00000639055.1:n.1344A>T
ENST00000639251.1:n.524A>T
ENST00000639268.1:c.258A>T
ENST00000639341.1:c.148A>T
ENST00000639770.1:c.661A>T	ENSP00000491999.1:n.661A>T
ENST00000640390.1:n.553A>T
ENST00000640560.1:n.399A>T
ENST00000640893.1:c.*21A>T	ENSP00000492677.1:n.*21A>T
ENST00000262493.10:c.623A>T	ENSP00000262493.6:p.Glu208Val
ENST00000262494.11:c.623A>T	ENSP00000262494.7:p.Glu208Val
ENST00000568375.1:n.15A>T
NM_020988.2:c.623A>T	NP_066268.1:p.Glu208Val
NM_138736.2:c.623A>T	NP_620073.2:p.Glu208Val
XM_011523003.1:c.497A>T	XP_011521305.1:p.Glu166Val
XM_011523003.3:c.497A>T	XP_011521305.1:p.Glu166Val
NM_020988.3:c.623A>T MANE Select	NP_066268.1:p.Glu208Val
NM_138736.3:c.623A>T	NP_620073.2:p.Glu208Val