Canonical Allele Identifier: CA395951560

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368711A>T (hg19) ; chr16:g.56334799A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334799A>T , CM000678.2:g.56334799A>T	GRCh38
NC_000016.9:g.56368711A>T , CM000678.1:g.56368711A>T	GRCh37
NC_000016.8:g.54926212A>T	NCBI36
NG_042800.1:g.148461A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.535A>T	ENSP00000262494.7:p.Arg179Trp
ENST00000262493.12:c.535A>T MANE Select	ENSP00000262493.6:p.Arg179Trp
ENST00000262494.12:c.535A>T	ENSP00000262494.7:p.Arg179Trp
ENST00000562316.6:c.202A>T	ENSP00000457238.2:p.Arg68Trp
ENST00000638185.1:n.750A>T
ENST00000638210.1:n.835A>T
ENST00000638705.1:c.535A>T	ENSP00000491223.1:p.Arg179Trp
ENST00000638836.1:n.445A>T
ENST00000639055.1:n.1256A>T
ENST00000639251.1:n.436A>T
ENST00000639268.1:c.229-1932A>T
ENST00000639341.1:c.60A>T
ENST00000639770.1:c.573A>T	ENSP00000491999.1:n.573A>T
ENST00000640390.1:n.465A>T
ENST00000640893.1:c.374A>T	ENSP00000492677.1:p.Gln125Leu
ENST00000262493.10:c.535A>T	ENSP00000262493.6:p.Arg179Trp
ENST00000262494.11:c.535A>T	ENSP00000262494.7:p.Arg179Trp
ENST00000562316.5:c.274A>T	ENSP00000457238.1:p.Arg92Trp
NM_020988.2:c.535A>T	NP_066268.1:p.Arg179Trp
NM_138736.2:c.535A>T	NP_620073.2:p.Arg179Trp
XM_011523003.1:c.409A>T	XP_011521305.1:p.Arg137Trp
XM_011523003.3:c.409A>T	XP_011521305.1:p.Arg137Trp
NM_020988.3:c.535A>T MANE Select	NP_066268.1:p.Arg179Trp
NM_138736.3:c.535A>T	NP_620073.2:p.Arg179Trp