Canonical Allele Identifier: CA395952257

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336785-C-G
• MyVariant Identifiers: chr16:g.56370697C>G (hg19) ; chr16:g.56336785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336785C>G , CM000678.2:g.56336785C>G	GRCh38
NC_000016.9:g.56370697C>G , CM000678.1:g.56370697C>G	GRCh37
NC_000016.8:g.54928198C>G	NCBI36
NG_042800.1:g.150447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.648C>G	ENSP00000262494.7:p.Phe216Leu
ENST00000262493.12:c.648C>G MANE Select	ENSP00000262493.6:p.Phe216Leu
ENST00000262494.12:c.648C>G	ENSP00000262494.7:p.Phe216Leu
ENST00000562316.6:c.315C>G	ENSP00000457238.2:p.Phe105Leu
ENST00000568375.2:c.40C>G
ENST00000638185.1:n.863C>G
ENST00000638210.1:n.948C>G
ENST00000638705.1:c.648C>G	ENSP00000491223.1:p.Phe216Leu
ENST00000638836.1:n.558C>G
ENST00000639055.1:n.1369C>G
ENST00000639251.1:n.549C>G
ENST00000639268.1:c.283C>G
ENST00000639341.1:c.173C>G
ENST00000639770.1:c.686C>G	ENSP00000491999.1:n.686C>G
ENST00000640390.1:n.578C>G
ENST00000640469.1:c.12C>G	ENSP00000491875.1:p.Phe4Leu
ENST00000640560.1:n.424C>G
ENST00000640893.1:c.*46C>G	ENSP00000492677.1:n.*46C>G
ENST00000262493.10:c.648C>G	ENSP00000262493.6:p.Phe216Leu
ENST00000262494.11:c.648C>G	ENSP00000262494.7:p.Phe216Leu
ENST00000568375.1:n.40C>G
NM_020988.2:c.648C>G	NP_066268.1:p.Phe216Leu
NM_138736.2:c.648C>G	NP_620073.2:p.Phe216Leu
XM_011523003.1:c.522C>G	XP_011521305.1:p.Phe174Leu
XM_011523003.3:c.522C>G	XP_011521305.1:p.Phe174Leu
NM_020988.3:c.648C>G MANE Select	NP_066268.1:p.Phe216Leu
NM_138736.3:c.648C>G	NP_620073.2:p.Phe216Leu