Canonical Allele Identifier: CA395952377

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370750T>G (hg19) ; chr16:g.56336838T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336838T>G , CM000678.2:g.56336838T>G	GRCh38
NC_000016.9:g.56370750T>G , CM000678.1:g.56370750T>G	GRCh37
NC_000016.8:g.54928251T>G	NCBI36
NG_042800.1:g.150500T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.701T>G	ENSP00000262494.7:p.Val234Gly
ENST00000262493.12:c.701T>G MANE Select	ENSP00000262493.6:p.Val234Gly
ENST00000262494.12:c.701T>G	ENSP00000262494.7:p.Val234Gly
ENST00000562316.6:c.368T>G	ENSP00000457238.2:p.Val123Gly
ENST00000564727.2:c.5T>G	ENSP00000454971.2:p.Val2Gly
ENST00000568375.2:c.93T>G
ENST00000638185.1:n.916T>G
ENST00000638210.1:n.1001T>G
ENST00000638705.1:c.701T>G	ENSP00000491223.1:p.Val234Gly
ENST00000638836.1:n.611T>G
ENST00000639055.1:n.1422T>G
ENST00000639251.1:n.602T>G
ENST00000639268.1:c.336T>G
ENST00000639341.1:c.226T>G
ENST00000639770.1:c.739T>G	ENSP00000491999.1:n.739T>G
ENST00000640390.1:n.631T>G
ENST00000640469.1:c.65T>G	ENSP00000491875.1:p.Val22Gly
ENST00000640560.1:n.477T>G
ENST00000640893.1:c.*99T>G	ENSP00000492677.1:n.*99T>G
ENST00000262493.10:c.701T>G	ENSP00000262493.6:p.Val234Gly
ENST00000262494.11:c.701T>G	ENSP00000262494.7:p.Val234Gly
ENST00000568375.1:n.93T>G
NM_020988.2:c.701T>G	NP_066268.1:p.Val234Gly
NM_138736.2:c.701T>G	NP_620073.2:p.Val234Gly
XM_011523003.1:c.575T>G	XP_011521305.1:p.Val192Gly
XM_011523003.3:c.575T>G	XP_011521305.1:p.Val192Gly
NM_020988.3:c.701T>G MANE Select	NP_066268.1:p.Val234Gly
NM_138736.3:c.701T>G	NP_620073.2:p.Val234Gly