Canonical Allele Identifier: CA395952155

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 545591
• ClinVar RCV Id: RCV000656551 ; RCV001731851 ; RCV001756114
• dbSNP Id: rs1297388989
• gnomAD v4: 16-56336741-G-A
• MyVariant Identifiers: chr16:g.56370653G>A (hg19) ; chr16:g.56336741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336741G>A , CM000678.2:g.56336741G>A	GRCh38
NC_000016.9:g.56370653G>A , CM000678.1:g.56370653G>A	GRCh37
NC_000016.8:g.54928154G>A	NCBI36
NG_042800.1:g.150403G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.604G>A	ENSP00000262494.7:p.Val202Ile
ENST00000262493.12:c.604G>A MANE Select	ENSP00000262493.6:p.Val202Ile
ENST00000262494.12:c.604G>A	ENSP00000262494.7:p.Val202Ile
ENST00000562316.6:c.271G>A	ENSP00000457238.2:p.Val91Ile
ENST00000638185.1:n.819G>A
ENST00000638210.1:n.904G>A
ENST00000638705.1:c.604G>A	ENSP00000491223.1:p.Val202Ile
ENST00000638836.1:n.514G>A
ENST00000639055.1:n.1325G>A
ENST00000639251.1:n.505G>A
ENST00000639268.1:c.239G>A
ENST00000639341.1:c.129G>A
ENST00000639770.1:c.642G>A	ENSP00000491999.1:n.642G>A
ENST00000640390.1:n.534G>A
ENST00000640560.1:n.380G>A
ENST00000640893.1:c.*2G>A	ENSP00000492677.1:n.*2G>A
ENST00000262493.10:c.604G>A	ENSP00000262493.6:p.Val202Ile
ENST00000262494.11:c.604G>A	ENSP00000262494.7:p.Val202Ile
NM_020988.2:c.604G>A	NP_066268.1:p.Val202Ile
NM_138736.2:c.604G>A	NP_620073.2:p.Val202Ile
XM_011523003.1:c.478G>A	XP_011521305.1:p.Val160Ile
XM_011523003.3:c.478G>A	XP_011521305.1:p.Val160Ile
NM_020988.3:c.604G>A MANE Select	NP_066268.1:p.Val202Ile
NM_138736.3:c.604G>A	NP_620073.2:p.Val202Ile