Canonical Allele Identifier: CA395954671

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385336G>T (hg19) ; chr16:g.56351424G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351424G>T , CM000678.2:g.56351424G>T	GRCh38
NC_000016.9:g.56385336G>T , CM000678.1:g.56385336G>T	GRCh37
NC_000016.8:g.54942837G>T	NCBI36
NG_042800.1:g.165086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.764G>T MANE Select	ENSP00000262493.6:p.Cys255Phe
ENST00000562316.6:c.431G>T	ENSP00000457238.2:p.Cys144Phe
ENST00000564727.2:c.68G>T	ENSP00000454971.2:p.Cys23Phe
ENST00000568375.2:c.116-3442G>T
ENST00000638185.1:n.979G>T
ENST00000638210.1:n.1064G>T
ENST00000638705.1:c.764G>T	ENSP00000491223.1:p.Cys255Phe
ENST00000638836.1:n.674G>T
ENST00000639055.1:n.1485G>T
ENST00000639251.1:n.665G>T
ENST00000639268.1:c.399G>T
ENST00000639341.1:c.289G>T
ENST00000639770.1:c.802G>T	ENSP00000491999.1:n.802G>T
ENST00000640390.1:n.694G>T
ENST00000640469.1:c.128G>T	ENSP00000491875.1:p.Cys43Phe
ENST00000640560.1:n.540G>T
ENST00000640893.1:c.*162G>T	ENSP00000492677.1:n.*162G>T
ENST00000262493.10:c.764G>T	ENSP00000262493.6:p.Cys255Phe
ENST00000568375.1:n.116-3442G>T
NM_020988.2:c.764G>T	NP_066268.1:p.Cys255Phe
XM_011523003.1:c.638G>T	XP_011521305.1:p.Cys213Phe
XM_011523003.3:c.638G>T	XP_011521305.1:p.Cys213Phe
NM_020988.3:c.764G>T MANE Select	NP_066268.1:p.Cys255Phe