Canonical Allele Identifier: CA395952335

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370732T>G (hg19) ; chr16:g.56336820T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336820T>G , CM000678.2:g.56336820T>G	GRCh38
NC_000016.9:g.56370732T>G , CM000678.1:g.56370732T>G	GRCh37
NC_000016.8:g.54928233T>G	NCBI36
NG_042800.1:g.150482T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.683T>G	ENSP00000262494.7:p.Leu228Arg
ENST00000262493.12:c.683T>G MANE Select	ENSP00000262493.6:p.Leu228Arg
ENST00000262494.12:c.683T>G	ENSP00000262494.7:p.Leu228Arg
ENST00000562316.6:c.350T>G	ENSP00000457238.2:p.Leu117Arg
ENST00000568375.2:c.75T>G
ENST00000638185.1:n.898T>G
ENST00000638210.1:n.983T>G
ENST00000638705.1:c.683T>G	ENSP00000491223.1:p.Leu228Arg
ENST00000638836.1:n.593T>G
ENST00000639055.1:n.1404T>G
ENST00000639251.1:n.584T>G
ENST00000639268.1:c.318T>G
ENST00000639341.1:c.208T>G
ENST00000639770.1:c.721T>G	ENSP00000491999.1:n.721T>G
ENST00000640390.1:n.613T>G
ENST00000640469.1:c.47T>G	ENSP00000491875.1:p.Leu16Arg
ENST00000640560.1:n.459T>G
ENST00000640893.1:c.*81T>G	ENSP00000492677.1:n.*81T>G
ENST00000262493.10:c.683T>G	ENSP00000262493.6:p.Leu228Arg
ENST00000262494.11:c.683T>G	ENSP00000262494.7:p.Leu228Arg
ENST00000568375.1:n.75T>G
NM_020988.2:c.683T>G	NP_066268.1:p.Leu228Arg
NM_138736.2:c.683T>G	NP_620073.2:p.Leu228Arg
XM_011523003.1:c.557T>G	XP_011521305.1:p.Leu186Arg
XM_011523003.3:c.557T>G	XP_011521305.1:p.Leu186Arg
NM_020988.3:c.683T>G MANE Select	NP_066268.1:p.Leu228Arg
NM_138736.3:c.683T>G	NP_620073.2:p.Leu228Arg