Canonical Allele Identifier: CA395952136

Gene: GNAO1

Linked Data

• dbSNP Id: rs2037743524
• gnomAD v3: 16-56336732-C-G
• gnomAD v4: 16-56336732-C-G
• MyVariant Identifiers: chr16:g.56370644C>G (hg19) ; chr16:g.56336732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336732C>G , CM000678.2:g.56336732C>G	GRCh38
NC_000016.9:g.56370644C>G , CM000678.1:g.56370644C>G	GRCh37
NC_000016.8:g.54928145C>G	NCBI36
NG_042800.1:g.150394C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.595C>G	ENSP00000262494.7:p.Leu199Val
ENST00000262493.12:c.595C>G MANE Select	ENSP00000262493.6:p.Leu199Val
ENST00000262494.12:c.595C>G	ENSP00000262494.7:p.Leu199Val
ENST00000562316.6:c.262C>G	ENSP00000457238.2:p.Leu88Val
ENST00000638185.1:n.810C>G
ENST00000638210.1:n.895C>G
ENST00000638705.1:c.595C>G	ENSP00000491223.1:p.Leu199Val
ENST00000638836.1:n.505C>G
ENST00000639055.1:n.1316C>G
ENST00000639251.1:n.496C>G
ENST00000639268.1:c.230C>G
ENST00000639341.1:c.120C>G
ENST00000639770.1:c.633C>G	ENSP00000491999.1:n.633C>G
ENST00000640390.1:n.525C>G
ENST00000640560.1:n.371C>G
ENST00000640893.1:c.434C>G	ENSP00000492677.1:p.Ala145Gly
ENST00000262493.10:c.595C>G	ENSP00000262493.6:p.Leu199Val
ENST00000262494.11:c.595C>G	ENSP00000262494.7:p.Leu199Val
NM_020988.2:c.595C>G	NP_066268.1:p.Leu199Val
NM_138736.2:c.595C>G	NP_620073.2:p.Leu199Val
XM_011523003.1:c.469C>G	XP_011521305.1:p.Leu157Val
XM_011523003.3:c.469C>G	XP_011521305.1:p.Leu157Val
NM_020988.3:c.595C>G MANE Select	NP_066268.1:p.Leu199Val
NM_138736.3:c.595C>G	NP_620073.2:p.Leu199Val