Canonical Allele Identifier: CA395951542

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1943224
• ClinVar RCV Id: RCV002670808 ; RCV003318729 ; RCV003973461
• MyVariant Identifiers: chr16:g.56368706G>A (hg19) ; chr16:g.56334794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334794G>A , CM000678.2:g.56334794G>A	GRCh38
NC_000016.9:g.56368706G>A , CM000678.1:g.56368706G>A	GRCh37
NC_000016.8:g.54926207G>A	NCBI36
NG_042800.1:g.148456G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.530G>A	ENSP00000262494.7:p.Arg177Gln
ENST00000262493.12:c.530G>A MANE Select	ENSP00000262493.6:p.Arg177Gln
ENST00000262494.12:c.530G>A	ENSP00000262494.7:p.Arg177Gln
ENST00000562316.6:c.197G>A	ENSP00000457238.2:p.Arg66Gln
ENST00000638185.1:n.745G>A
ENST00000638210.1:n.830G>A
ENST00000638705.1:c.530G>A	ENSP00000491223.1:p.Arg177Gln
ENST00000638836.1:n.440G>A
ENST00000639055.1:n.1251G>A
ENST00000639251.1:n.431G>A
ENST00000639268.1:c.229-1937G>A
ENST00000639341.1:c.55G>A
ENST00000639770.1:c.568G>A	ENSP00000491999.1:n.568G>A
ENST00000640390.1:n.460G>A
ENST00000640893.1:c.369G>A	ENSP00000492677.1:p.Pro123=
ENST00000262493.10:c.530G>A	ENSP00000262493.6:p.Arg177Gln
ENST00000262494.11:c.530G>A	ENSP00000262494.7:p.Arg177Gln
ENST00000562316.5:c.269G>A	ENSP00000457238.1:p.Arg90Gln
NM_020988.2:c.530G>A	NP_066268.1:p.Arg177Gln
NM_138736.2:c.530G>A	NP_620073.2:p.Arg177Gln
XM_011523003.1:c.404G>A	XP_011521305.1:p.Arg135Gln
XM_011523003.3:c.404G>A	XP_011521305.1:p.Arg135Gln
NM_020988.3:c.530G>A MANE Select	NP_066268.1:p.Arg177Gln
NM_138736.3:c.530G>A	NP_620073.2:p.Arg177Gln