Canonical Allele Identifier: CA395952261

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370699A>C (hg19) ; chr16:g.56336787A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336787A>C , CM000678.2:g.56336787A>C	GRCh38
NC_000016.9:g.56370699A>C , CM000678.1:g.56370699A>C	GRCh37
NC_000016.8:g.54928200A>C	NCBI36
NG_042800.1:g.150449A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.650A>C	ENSP00000262494.7:p.Glu217Ala
ENST00000262493.12:c.650A>C MANE Select	ENSP00000262493.6:p.Glu217Ala
ENST00000262494.12:c.650A>C	ENSP00000262494.7:p.Glu217Ala
ENST00000562316.6:c.317A>C	ENSP00000457238.2:p.Glu106Ala
ENST00000568375.2:c.42A>C
ENST00000638185.1:n.865A>C
ENST00000638210.1:n.950A>C
ENST00000638705.1:c.650A>C	ENSP00000491223.1:p.Glu217Ala
ENST00000638836.1:n.560A>C
ENST00000639055.1:n.1371A>C
ENST00000639251.1:n.551A>C
ENST00000639268.1:c.285A>C
ENST00000639341.1:c.175A>C
ENST00000639770.1:c.688A>C	ENSP00000491999.1:n.688A>C
ENST00000640390.1:n.580A>C
ENST00000640469.1:c.14A>C	ENSP00000491875.1:p.Glu5Ala
ENST00000640560.1:n.426A>C
ENST00000640893.1:c.*48A>C	ENSP00000492677.1:n.*48A>C
ENST00000262493.10:c.650A>C	ENSP00000262493.6:p.Glu217Ala
ENST00000262494.11:c.650A>C	ENSP00000262494.7:p.Glu217Ala
ENST00000568375.1:n.42A>C
NM_020988.2:c.650A>C	NP_066268.1:p.Glu217Ala
NM_138736.2:c.650A>C	NP_620073.2:p.Glu217Ala
XM_011523003.1:c.524A>C	XP_011521305.1:p.Glu175Ala
XM_011523003.3:c.524A>C	XP_011521305.1:p.Glu175Ala
NM_020988.3:c.650A>C MANE Select	NP_066268.1:p.Glu217Ala
NM_138736.3:c.650A>C	NP_620073.2:p.Glu217Ala