Canonical Allele Identifier: CA281426766

Gene: GNAO1

Linked Data

• dbSNP Id: rs1029083149
• gnomAD v2: 16-56368666-G-T
• MyVariant Identifiers: chr16:g.56368666G>T (hg19) ; chr16:g.56334754G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334754G>T , CM000678.2:g.56334754G>T	GRCh38
NC_000016.9:g.56368666G>T , CM000678.1:g.56368666G>T	GRCh37
NC_000016.8:g.54926167G>T	NCBI36
NG_042800.1:g.148416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.490G>T	ENSP00000262494.7:p.Gly164Trp
ENST00000262493.12:c.490G>T MANE Select	ENSP00000262493.6:p.Gly164Trp
ENST00000262494.12:c.490G>T	ENSP00000262494.7:p.Gly164Trp
ENST00000562316.6:c.157G>T	ENSP00000457238.2:p.Gly53Trp
ENST00000638185.1:n.705G>T
ENST00000638210.1:n.790G>T
ENST00000638705.1:c.490G>T	ENSP00000491223.1:p.Gly164Trp
ENST00000638836.1:n.400G>T
ENST00000639055.1:n.1211G>T
ENST00000639251.1:n.391G>T
ENST00000639268.1:c.229-1977G>T
ENST00000639341.1:c.15G>T
ENST00000639770.1:c.528G>T	ENSP00000491999.1:n.528G>T
ENST00000640390.1:n.420G>T
ENST00000640893.1:c.329G>T	ENSP00000492677.1:p.Trp110Leu
ENST00000262493.10:c.490G>T	ENSP00000262493.6:p.Gly164Trp
ENST00000262494.11:c.490G>T	ENSP00000262494.7:p.Gly164Trp
ENST00000562316.5:c.229G>T	ENSP00000457238.1:p.Gly77Trp
ENST00000563440.1:c.229G>T	ENSP00000455774.1:p.Gly77Trp
ENST00000565363.5:c.364G>T	ENSP00000454728.1:p.Gly122Trp
NM_020988.2:c.490G>T	NP_066268.1:p.Gly164Trp
NM_138736.2:c.490G>T	NP_620073.2:p.Gly164Trp
XM_011523003.1:c.364G>T	XP_011521305.1:p.Gly122Trp
XM_011523003.3:c.364G>T	XP_011521305.1:p.Gly122Trp
NM_020988.3:c.490G>T MANE Select	NP_066268.1:p.Gly164Trp
NM_138736.3:c.490G>T	NP_620073.2:p.Gly164Trp