Canonical Allele Identifier: CA395952398

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370759A>T (hg19) ; chr16:g.56336847A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336847A>T , CM000678.2:g.56336847A>T	GRCh38
NC_000016.9:g.56370759A>T , CM000678.1:g.56370759A>T	GRCh37
NC_000016.8:g.54928260A>T	NCBI36
NG_042800.1:g.150509A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.710A>T	ENSP00000262494.7:p.Glu237Val
ENST00000262493.12:c.710A>T MANE Select	ENSP00000262493.6:p.Glu237Val
ENST00000262494.12:c.710A>T	ENSP00000262494.7:p.Glu237Val
ENST00000562316.6:c.377A>T	ENSP00000457238.2:p.Glu126Val
ENST00000564727.2:c.14A>T	ENSP00000454971.2:p.Glu5Val
ENST00000568375.2:c.102A>T
ENST00000638185.1:n.925A>T
ENST00000638210.1:n.1010A>T
ENST00000638705.1:c.710A>T	ENSP00000491223.1:p.Glu237Val
ENST00000638836.1:n.620A>T
ENST00000639055.1:n.1431A>T
ENST00000639251.1:n.611A>T
ENST00000639268.1:c.345A>T
ENST00000639341.1:c.235A>T
ENST00000639770.1:c.748A>T	ENSP00000491999.1:n.748A>T
ENST00000640390.1:n.640A>T
ENST00000640469.1:c.74A>T	ENSP00000491875.1:p.Glu25Val
ENST00000640560.1:n.486A>T
ENST00000640893.1:c.*108A>T	ENSP00000492677.1:n.*108A>T
ENST00000262493.10:c.710A>T	ENSP00000262493.6:p.Glu237Val
ENST00000262494.11:c.710A>T	ENSP00000262494.7:p.Glu237Val
ENST00000568375.1:n.102A>T
NM_020988.2:c.710A>T	NP_066268.1:p.Glu237Val
NM_138736.2:c.710A>T	NP_620073.2:p.Glu237Val
XM_011523003.1:c.584A>T	XP_011521305.1:p.Glu195Val
XM_011523003.3:c.584A>T	XP_011521305.1:p.Glu195Val
NM_020988.3:c.710A>T MANE Select	NP_066268.1:p.Glu237Val
NM_138736.3:c.710A>T	NP_620073.2:p.Glu237Val