Canonical Allele Identifier: CA395952318

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370723G>T (hg19) ; chr16:g.56336811G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336811G>T , CM000678.2:g.56336811G>T	GRCh38
NC_000016.9:g.56370723G>T , CM000678.1:g.56370723G>T	GRCh37
NC_000016.8:g.54928224G>T	NCBI36
NG_042800.1:g.150473G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.674G>T	ENSP00000262494.7:p.Cys225Phe
ENST00000262493.12:c.674G>T MANE Select	ENSP00000262493.6:p.Cys225Phe
ENST00000262494.12:c.674G>T	ENSP00000262494.7:p.Cys225Phe
ENST00000562316.6:c.341G>T	ENSP00000457238.2:p.Cys114Phe
ENST00000568375.2:c.66G>T
ENST00000638185.1:n.889G>T
ENST00000638210.1:n.974G>T
ENST00000638705.1:c.674G>T	ENSP00000491223.1:p.Cys225Phe
ENST00000638836.1:n.584G>T
ENST00000639055.1:n.1395G>T
ENST00000639251.1:n.575G>T
ENST00000639268.1:c.309G>T
ENST00000639341.1:c.199G>T
ENST00000639770.1:c.712G>T	ENSP00000491999.1:n.712G>T
ENST00000640390.1:n.604G>T
ENST00000640469.1:c.38G>T	ENSP00000491875.1:p.Cys13Phe
ENST00000640560.1:n.450G>T
ENST00000640893.1:c.*72G>T	ENSP00000492677.1:n.*72G>T
ENST00000262493.10:c.674G>T	ENSP00000262493.6:p.Cys225Phe
ENST00000262494.11:c.674G>T	ENSP00000262494.7:p.Cys225Phe
ENST00000568375.1:n.66G>T
NM_020988.2:c.674G>T	NP_066268.1:p.Cys225Phe
NM_138736.2:c.674G>T	NP_620073.2:p.Cys225Phe
XM_011523003.1:c.548G>T	XP_011521305.1:p.Cys183Phe
XM_011523003.3:c.548G>T	XP_011521305.1:p.Cys183Phe
NM_020988.3:c.674G>T MANE Select	NP_066268.1:p.Cys225Phe
NM_138736.3:c.674G>T	NP_620073.2:p.Cys225Phe