Canonical Allele Identifier: CA395954638

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385323T>C (hg19) ; chr16:g.56351411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351411T>C , CM000678.2:g.56351411T>C	GRCh38
NC_000016.9:g.56385323T>C , CM000678.1:g.56385323T>C	GRCh37
NC_000016.8:g.54942824T>C	NCBI36
NG_042800.1:g.165073T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.751T>C MANE Select	ENSP00000262493.6:p.Phe251Leu
ENST00000562316.6:c.418T>C	ENSP00000457238.2:p.Phe140Leu
ENST00000564727.2:c.55T>C	ENSP00000454971.2:p.Phe19Leu
ENST00000568375.2:c.116-3455T>C
ENST00000638185.1:n.966T>C
ENST00000638210.1:n.1051T>C
ENST00000638705.1:c.751T>C	ENSP00000491223.1:p.Phe251Leu
ENST00000638836.1:n.661T>C
ENST00000639055.1:n.1472T>C
ENST00000639251.1:n.652T>C
ENST00000639268.1:c.386T>C
ENST00000639341.1:c.276T>C
ENST00000639770.1:c.789T>C	ENSP00000491999.1:n.789T>C
ENST00000640390.1:n.681T>C
ENST00000640469.1:c.115T>C	ENSP00000491875.1:p.Phe39Leu
ENST00000640560.1:n.527T>C
ENST00000640893.1:c.*149T>C	ENSP00000492677.1:n.*149T>C
ENST00000262493.10:c.751T>C	ENSP00000262493.6:p.Phe251Leu
ENST00000568375.1:n.116-3455T>C
NM_020988.2:c.751T>C	NP_066268.1:p.Phe251Leu
XM_011523003.1:c.625T>C	XP_011521305.1:p.Phe209Leu
XM_011523003.3:c.625T>C	XP_011521305.1:p.Phe209Leu
NM_020988.3:c.751T>C MANE Select	NP_066268.1:p.Phe251Leu