Canonical Allele Identifier: CA395952147

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370649T>G (hg19) ; chr16:g.56336737T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336737T>G , CM000678.2:g.56336737T>G	GRCh38
NC_000016.9:g.56370649T>G , CM000678.1:g.56370649T>G	GRCh37
NC_000016.8:g.54928150T>G	NCBI36
NG_042800.1:g.150399T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.600T>G	ENSP00000262494.7:p.Phe200Leu
ENST00000262493.12:c.600T>G MANE Select	ENSP00000262493.6:p.Phe200Leu
ENST00000262494.12:c.600T>G	ENSP00000262494.7:p.Phe200Leu
ENST00000562316.6:c.267T>G	ENSP00000457238.2:p.Phe89Leu
ENST00000638185.1:n.815T>G
ENST00000638210.1:n.900T>G
ENST00000638705.1:c.600T>G	ENSP00000491223.1:p.Phe200Leu
ENST00000638836.1:n.510T>G
ENST00000639055.1:n.1321T>G
ENST00000639251.1:n.501T>G
ENST00000639268.1:c.235T>G
ENST00000639341.1:c.125T>G
ENST00000639770.1:c.638T>G	ENSP00000491999.1:n.638T>G
ENST00000640390.1:n.530T>G
ENST00000640560.1:n.376T>G
ENST00000640893.1:c.439T>G	ENSP00000492677.1:p.Ter147Gly
ENST00000262493.10:c.600T>G	ENSP00000262493.6:p.Phe200Leu
ENST00000262494.11:c.600T>G	ENSP00000262494.7:p.Phe200Leu
NM_020988.2:c.600T>G	NP_066268.1:p.Phe200Leu
NM_138736.2:c.600T>G	NP_620073.2:p.Phe200Leu
XM_011523003.1:c.474T>G	XP_011521305.1:p.Phe158Leu
XM_011523003.3:c.474T>G	XP_011521305.1:p.Phe158Leu
NM_020988.3:c.600T>G MANE Select	NP_066268.1:p.Phe200Leu
NM_138736.3:c.600T>G	NP_620073.2:p.Phe200Leu