Canonical Allele Identifier: CA395951439

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2799386
• ClinVar RCV Id: RCV003753948
• MyVariant Identifiers: chr16:g.56368673C>T (hg19) ; chr16:g.56334761C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334761C>T , CM000678.2:g.56334761C>T	GRCh38
NC_000016.9:g.56368673C>T , CM000678.1:g.56368673C>T	GRCh37
NC_000016.8:g.54926174C>T	NCBI36
NG_042800.1:g.148423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.497C>T	ENSP00000262494.7:p.Ala166Val
ENST00000262493.12:c.497C>T MANE Select	ENSP00000262493.6:p.Ala166Val
ENST00000262494.12:c.497C>T	ENSP00000262494.7:p.Ala166Val
ENST00000562316.6:c.164C>T	ENSP00000457238.2:p.Ala55Val
ENST00000638185.1:n.712C>T
ENST00000638210.1:n.797C>T
ENST00000638705.1:c.497C>T	ENSP00000491223.1:p.Ala166Val
ENST00000638836.1:n.407C>T
ENST00000639055.1:n.1218C>T
ENST00000639251.1:n.398C>T
ENST00000639268.1:c.229-1970C>T
ENST00000639341.1:c.22C>T
ENST00000639770.1:c.535C>T	ENSP00000491999.1:n.535C>T
ENST00000640390.1:n.427C>T
ENST00000640893.1:c.336C>T	ENSP00000492677.1:p.Arg112=
ENST00000262493.10:c.497C>T	ENSP00000262493.6:p.Ala166Val
ENST00000262494.11:c.497C>T	ENSP00000262494.7:p.Ala166Val
ENST00000562316.5:c.236C>T	ENSP00000457238.1:p.Ala79Val
ENST00000563440.1:c.236C>T	ENSP00000455774.1:p.Ala79Val
ENST00000565363.5:c.371C>T	ENSP00000454728.1:p.Ala124Val
NM_020988.2:c.497C>T	NP_066268.1:p.Ala166Val
NM_138736.2:c.497C>T	NP_620073.2:p.Ala166Val
XM_011523003.1:c.371C>T	XP_011521305.1:p.Ala124Val
XM_011523003.3:c.371C>T	XP_011521305.1:p.Ala124Val
NM_020988.3:c.497C>T MANE Select	NP_066268.1:p.Ala166Val
NM_138736.3:c.497C>T	NP_620073.2:p.Ala166Val