Canonical Allele Identifier: CA395952182

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1453470
• ClinVar RCV Id: RCV002002430
• dbSNP Id: rs1297225571
• gnomAD v4: 16-56336754-G-T
• MyVariant Identifiers: chr16:g.56370666G>T (hg19) ; chr16:g.56336754G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336754G>T , CM000678.2:g.56336754G>T	GRCh38
NC_000016.9:g.56370666G>T , CM000678.1:g.56370666G>T	GRCh37
NC_000016.8:g.54928167G>T	NCBI36
NG_042800.1:g.150416G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.617G>T	ENSP00000262494.7:p.Arg206Leu
ENST00000262493.12:c.617G>T MANE Select	ENSP00000262493.6:p.Arg206Leu
ENST00000262494.12:c.617G>T	ENSP00000262494.7:p.Arg206Leu
ENST00000562316.6:c.284G>T	ENSP00000457238.2:p.Arg95Leu
ENST00000568375.2:c.9G>T
ENST00000638185.1:n.832G>T
ENST00000638210.1:n.917G>T
ENST00000638705.1:c.617G>T	ENSP00000491223.1:p.Arg206Leu
ENST00000638836.1:n.527G>T
ENST00000639055.1:n.1338G>T
ENST00000639251.1:n.518G>T
ENST00000639268.1:c.252G>T
ENST00000639341.1:c.142G>T
ENST00000639770.1:c.655G>T	ENSP00000491999.1:n.655G>T
ENST00000640390.1:n.547G>T
ENST00000640560.1:n.393G>T
ENST00000640893.1:c.*15G>T	ENSP00000492677.1:n.*15G>T
ENST00000262493.10:c.617G>T	ENSP00000262493.6:p.Arg206Leu
ENST00000262494.11:c.617G>T	ENSP00000262494.7:p.Arg206Leu
ENST00000568375.1:n.9G>T
NM_020988.2:c.617G>T	NP_066268.1:p.Arg206Leu
NM_138736.2:c.617G>T	NP_620073.2:p.Arg206Leu
XM_011523003.1:c.491G>T	XP_011521305.1:p.Arg164Leu
XM_011523003.3:c.491G>T	XP_011521305.1:p.Arg164Leu
NM_020988.3:c.617G>T MANE Select	NP_066268.1:p.Arg206Leu
NM_138736.3:c.617G>T	NP_620073.2:p.Arg206Leu