Canonical Allele Identifier: CA395952401

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370761G>A (hg19) ; chr16:g.56336849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336849G>A , CM000678.2:g.56336849G>A	GRCh38
NC_000016.9:g.56370761G>A , CM000678.1:g.56370761G>A	GRCh37
NC_000016.8:g.54928262G>A	NCBI36
NG_042800.1:g.150511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.712G>A	ENSP00000262494.7:p.Asp238Asn
ENST00000262493.12:c.712G>A MANE Select	ENSP00000262493.6:p.Asp238Asn
ENST00000262494.12:c.712G>A	ENSP00000262494.7:p.Asp238Asn
ENST00000562316.6:c.379G>A	ENSP00000457238.2:p.Asp127Asn
ENST00000564727.2:c.16G>A	ENSP00000454971.2:p.Asp6Asn
ENST00000568375.2:c.104G>A
ENST00000638185.1:n.927G>A
ENST00000638210.1:n.1012G>A
ENST00000638705.1:c.712G>A	ENSP00000491223.1:p.Asp238Asn
ENST00000638836.1:n.622G>A
ENST00000639055.1:n.1433G>A
ENST00000639251.1:n.613G>A
ENST00000639268.1:c.347G>A
ENST00000639341.1:c.237G>A
ENST00000639770.1:c.750G>A	ENSP00000491999.1:n.750G>A
ENST00000640390.1:n.642G>A
ENST00000640469.1:c.76G>A	ENSP00000491875.1:p.Asp26Asn
ENST00000640560.1:n.488G>A
ENST00000640893.1:c.*110G>A	ENSP00000492677.1:n.*110G>A
ENST00000262493.10:c.712G>A	ENSP00000262493.6:p.Asp238Asn
ENST00000262494.11:c.712G>A	ENSP00000262494.7:p.Asp238Asn
ENST00000568375.1:n.104G>A
NM_020988.2:c.712G>A	NP_066268.1:p.Asp238Asn
NM_138736.2:c.712G>A	NP_620073.2:p.Asp238Asn
XM_011523003.1:c.586G>A	XP_011521305.1:p.Asp196Asn
XM_011523003.3:c.586G>A	XP_011521305.1:p.Asp196Asn
NM_020988.3:c.712G>A MANE Select	NP_066268.1:p.Asp238Asn
NM_138736.3:c.712G>A	NP_620073.2:p.Asp238Asn