Canonical Allele Identifier: CA395952424

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370770A>G (hg19) ; chr16:g.56336858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336858A>G , CM000678.2:g.56336858A>G	GRCh38
NC_000016.9:g.56370770A>G , CM000678.1:g.56370770A>G	GRCh37
NC_000016.8:g.54928271A>G	NCBI36
NG_042800.1:g.150520A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.721A>G	ENSP00000262494.7:p.Thr241Ala
ENST00000262493.12:c.721A>G MANE Select	ENSP00000262493.6:p.Thr241Ala
ENST00000262494.12:c.721A>G	ENSP00000262494.7:p.Thr241Ala
ENST00000562316.6:c.388A>G	ENSP00000457238.2:p.Thr130Ala
ENST00000564727.2:c.25A>G	ENSP00000454971.2:p.Thr9Ala
ENST00000568375.2:c.113A>G
ENST00000638185.1:n.936A>G
ENST00000638210.1:n.1021A>G
ENST00000638705.1:c.721A>G	ENSP00000491223.1:p.Thr241Ala
ENST00000638836.1:n.631A>G
ENST00000639055.1:n.1442A>G
ENST00000639251.1:n.622A>G
ENST00000639268.1:c.356A>G
ENST00000639341.1:c.246A>G
ENST00000639770.1:c.759A>G	ENSP00000491999.1:n.759A>G
ENST00000640390.1:n.651A>G
ENST00000640469.1:c.85A>G	ENSP00000491875.1:p.Thr29Ala
ENST00000640560.1:n.497A>G
ENST00000640893.1:c.*119A>G	ENSP00000492677.1:n.*119A>G
ENST00000262493.10:c.721A>G	ENSP00000262493.6:p.Thr241Ala
ENST00000262494.11:c.721A>G	ENSP00000262494.7:p.Thr241Ala
ENST00000568375.1:n.113A>G
NM_020988.2:c.721A>G	NP_066268.1:p.Thr241Ala
NM_138736.2:c.721A>G	NP_620073.2:p.Thr241Ala
XM_011523003.1:c.595A>G	XP_011521305.1:p.Thr199Ala
XM_011523003.3:c.595A>G	XP_011521305.1:p.Thr199Ala
NM_020988.3:c.721A>G MANE Select	NP_066268.1:p.Thr241Ala
NM_138736.3:c.721A>G	NP_620073.2:p.Thr241Ala