Canonical Allele Identifier: CA395952142

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336735-T-G
• MyVariant Identifiers: chr16:g.56370647T>G (hg19) ; chr16:g.56336735T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336735T>G , CM000678.2:g.56336735T>G	GRCh38
NC_000016.9:g.56370647T>G , CM000678.1:g.56370647T>G	GRCh37
NC_000016.8:g.54928148T>G	NCBI36
NG_042800.1:g.150397T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.598T>G	ENSP00000262494.7:p.Phe200Val
ENST00000262493.12:c.598T>G MANE Select	ENSP00000262493.6:p.Phe200Val
ENST00000262494.12:c.598T>G	ENSP00000262494.7:p.Phe200Val
ENST00000562316.6:c.265T>G	ENSP00000457238.2:p.Phe89Val
ENST00000638185.1:n.813T>G
ENST00000638210.1:n.898T>G
ENST00000638705.1:c.598T>G	ENSP00000491223.1:p.Phe200Val
ENST00000638836.1:n.508T>G
ENST00000639055.1:n.1319T>G
ENST00000639251.1:n.499T>G
ENST00000639268.1:c.233T>G
ENST00000639341.1:c.123T>G
ENST00000639770.1:c.636T>G	ENSP00000491999.1:n.636T>G
ENST00000640390.1:n.528T>G
ENST00000640560.1:n.374T>G
ENST00000640893.1:c.437T>G	ENSP00000492677.1:p.Val146Gly
ENST00000262493.10:c.598T>G	ENSP00000262493.6:p.Phe200Val
ENST00000262494.11:c.598T>G	ENSP00000262494.7:p.Phe200Val
NM_020988.2:c.598T>G	NP_066268.1:p.Phe200Val
NM_138736.2:c.598T>G	NP_620073.2:p.Phe200Val
XM_011523003.1:c.472T>G	XP_011521305.1:p.Phe158Val
XM_011523003.3:c.472T>G	XP_011521305.1:p.Phe158Val
NM_020988.3:c.598T>G MANE Select	NP_066268.1:p.Phe200Val
NM_138736.3:c.598T>G	NP_620073.2:p.Phe200Val