Canonical Allele Identifier: CA395951570

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368714G>A (hg19) ; chr16:g.56334802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334802G>A , CM000678.2:g.56334802G>A	GRCh38
NC_000016.9:g.56368714G>A , CM000678.1:g.56368714G>A	GRCh37
NC_000016.8:g.54926215G>A	NCBI36
NG_042800.1:g.148464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.538G>A	ENSP00000262494.7:p.Val180Ile
ENST00000262493.12:c.538G>A MANE Select	ENSP00000262493.6:p.Val180Ile
ENST00000262494.12:c.538G>A	ENSP00000262494.7:p.Val180Ile
ENST00000562316.6:c.205G>A	ENSP00000457238.2:p.Val69Ile
ENST00000638185.1:n.753G>A
ENST00000638210.1:n.838G>A
ENST00000638705.1:c.538G>A	ENSP00000491223.1:p.Val180Ile
ENST00000638836.1:n.448G>A
ENST00000639055.1:n.1259G>A
ENST00000639251.1:n.439G>A
ENST00000639268.1:c.229-1929G>A
ENST00000639341.1:c.63G>A
ENST00000639770.1:c.576G>A	ENSP00000491999.1:n.576G>A
ENST00000640390.1:n.468G>A
ENST00000640893.1:c.377G>A	ENSP00000492677.1:p.Gly126Asp
ENST00000262493.10:c.538G>A	ENSP00000262493.6:p.Val180Ile
ENST00000262494.11:c.538G>A	ENSP00000262494.7:p.Val180Ile
ENST00000562316.5:c.277G>A	ENSP00000457238.1:p.Val93Ile
NM_020988.2:c.538G>A	NP_066268.1:p.Val180Ile
NM_138736.2:c.538G>A	NP_620073.2:p.Val180Ile
XM_011523003.1:c.412G>A	XP_011521305.1:p.Val138Ile
XM_011523003.3:c.412G>A	XP_011521305.1:p.Val138Ile
NM_020988.3:c.538G>A MANE Select	NP_066268.1:p.Val180Ile
NM_138736.3:c.538G>A	NP_620073.2:p.Val180Ile