Canonical Allele Identifier: CA396128175

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 450553
• ClinVar RCV Id: RCV000519172 ; RCV001314766
• dbSNP Id: rs1555504233
• gnomAD v4: 16-56276031-A-G
• MyVariant Identifiers: chr16:g.56309943A>G (hg19) ; chr16:g.56276031A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56276031A>G , CM000678.2:g.56276031A>G	GRCh38
NC_000016.9:g.56309943A>G , CM000678.1:g.56309943A>G	GRCh37
NC_000016.8:g.54867444A>G	NCBI36
NG_042800.1:g.89693A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.262A>G	ENSP00000262494.7:p.Met88Val
ENST00000262493.12:c.262A>G MANE Select	ENSP00000262493.6:p.Met88Val
ENST00000262494.12:c.262A>G	ENSP00000262494.7:p.Met88Val
ENST00000563661.2:c.262A>G	ENSP00000492694.1:p.Met88Val
ENST00000638185.1:n.477A>G
ENST00000638210.1:n.562A>G
ENST00000638705.1:c.262A>G	ENSP00000491223.1:p.Met88Val
ENST00000638836.1:n.172A>G
ENST00000639055.1:n.983A>G
ENST00000639251.1:n.163A>G
ENST00000639268.1:c.26A>G
ENST00000639770.1:c.300A>G	ENSP00000491999.1:n.300A>G
ENST00000639966.1:n.277A>G
ENST00000640390.1:n.192A>G
ENST00000640893.1:c.262A>G	ENSP00000492677.1:p.Met88Val
ENST00000262493.10:c.262A>G	ENSP00000262493.6:p.Met88Val
ENST00000262494.11:c.262A>G	ENSP00000262494.7:p.Met88Val
ENST00000562316.5:c.1A>G	ENSP00000457238.1:p.Met1Val
ENST00000563440.1:c.1A>G	ENSP00000455774.1:p.Met1Val
ENST00000563661.1:n.259A>G
ENST00000565363.5:c.136A>G	ENSP00000454728.1:p.Met46Val
NM_020988.2:c.262A>G	NP_066268.1:p.Met88Val
NM_138736.2:c.262A>G	NP_620073.2:p.Met88Val
XM_011523003.1:c.136A>G	XP_011521305.1:p.Met46Val
XM_011523003.3:c.136A>G	XP_011521305.1:p.Met46Val
NM_020988.3:c.262A>G MANE Select	NP_066268.1:p.Met88Val
NM_138736.3:c.262A>G	NP_620073.2:p.Met88Val