Canonical Allele Identifier: CA395951607

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 812779
• ClinVar RCV Id: RCV001003611
• dbSNP Id: rs1596871452
• MyVariant Identifiers: chr16:g.56368721C>T (hg19) ; chr16:g.56334809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334809C>T , CM000678.2:g.56334809C>T	GRCh38
NC_000016.9:g.56368721C>T , CM000678.1:g.56368721C>T	GRCh37
NC_000016.8:g.54926222C>T	NCBI36
NG_042800.1:g.148471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.545C>T	ENSP00000262494.7:p.Thr182Ile
ENST00000262493.12:c.545C>T MANE Select	ENSP00000262493.6:p.Thr182Ile
ENST00000262494.12:c.545C>T	ENSP00000262494.7:p.Thr182Ile
ENST00000562316.6:c.212C>T	ENSP00000457238.2:p.Thr71Ile
ENST00000638185.1:n.760C>T
ENST00000638210.1:n.845C>T
ENST00000638705.1:c.545C>T	ENSP00000491223.1:p.Thr182Ile
ENST00000638836.1:n.455C>T
ENST00000639055.1:n.1266C>T
ENST00000639251.1:n.446C>T
ENST00000639268.1:c.229-1922C>T
ENST00000639341.1:c.70C>T
ENST00000639770.1:c.583C>T	ENSP00000491999.1:n.583C>T
ENST00000640390.1:n.475C>T
ENST00000640893.1:c.384C>T	ENSP00000492677.1:p.Asn128=
ENST00000262493.10:c.545C>T	ENSP00000262493.6:p.Thr182Ile
ENST00000262494.11:c.545C>T	ENSP00000262494.7:p.Thr182Ile
ENST00000562316.5:c.284C>T	ENSP00000457238.1:p.Thr95Ile
NM_020988.2:c.545C>T	NP_066268.1:p.Thr182Ile
NM_138736.2:c.545C>T	NP_620073.2:p.Thr182Ile
XM_011523003.1:c.419C>T	XP_011521305.1:p.Thr140Ile
XM_011523003.3:c.419C>T	XP_011521305.1:p.Thr140Ile
NM_020988.3:c.545C>T MANE Select	NP_066268.1:p.Thr182Ile
NM_138736.3:c.545C>T	NP_620073.2:p.Thr182Ile