Canonical Allele Identifier: CA395951383

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368646T>G (hg19) ; chr16:g.56334734T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334734T>G , CM000678.2:g.56334734T>G	GRCh38
NC_000016.9:g.56368646T>G , CM000678.1:g.56368646T>G	GRCh37
NC_000016.8:g.54926147T>G	NCBI36
NG_042800.1:g.148396T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.470T>G	ENSP00000262494.7:p.Leu157Arg
ENST00000262493.12:c.470T>G MANE Select	ENSP00000262493.6:p.Leu157Arg
ENST00000262494.12:c.470T>G	ENSP00000262494.7:p.Leu157Arg
ENST00000562316.6:c.137T>G	ENSP00000457238.2:p.Leu46Arg
ENST00000638185.1:n.685T>G
ENST00000638210.1:n.770T>G
ENST00000638705.1:c.470T>G	ENSP00000491223.1:p.Leu157Arg
ENST00000638836.1:n.380T>G
ENST00000639055.1:n.1191T>G
ENST00000639251.1:n.371T>G
ENST00000639268.1:c.229-1997T>G
ENST00000639770.1:c.508T>G	ENSP00000491999.1:n.508T>G
ENST00000640390.1:n.400T>G
ENST00000640893.1:c.309T>G	ENSP00000492677.1:p.Pro103=
ENST00000262493.10:c.470T>G	ENSP00000262493.6:p.Leu157Arg
ENST00000262494.11:c.470T>G	ENSP00000262494.7:p.Leu157Arg
ENST00000562316.5:c.209T>G	ENSP00000457238.1:p.Leu70Arg
ENST00000563440.1:c.209T>G	ENSP00000455774.1:p.Leu70Arg
ENST00000565363.5:c.344T>G	ENSP00000454728.1:p.Leu115Arg
NM_020988.2:c.470T>G	NP_066268.1:p.Leu157Arg
NM_138736.2:c.470T>G	NP_620073.2:p.Leu157Arg
XM_011523003.1:c.344T>G	XP_011521305.1:p.Leu115Arg
XM_011523003.3:c.344T>G	XP_011521305.1:p.Leu115Arg
NM_020988.3:c.470T>G MANE Select	NP_066268.1:p.Leu157Arg
NM_138736.3:c.470T>G	NP_620073.2:p.Leu157Arg