Canonical Allele Identifier: CA395951551

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368709C>G (hg19) ; chr16:g.56334797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334797C>G , CM000678.2:g.56334797C>G	GRCh38
NC_000016.9:g.56368709C>G , CM000678.1:g.56368709C>G	GRCh37
NC_000016.8:g.54926210C>G	NCBI36
NG_042800.1:g.148459C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.533C>G	ENSP00000262494.7:p.Thr178Ser
ENST00000262493.12:c.533C>G MANE Select	ENSP00000262493.6:p.Thr178Ser
ENST00000262494.12:c.533C>G	ENSP00000262494.7:p.Thr178Ser
ENST00000562316.6:c.200C>G	ENSP00000457238.2:p.Thr67Ser
ENST00000638185.1:n.748C>G
ENST00000638210.1:n.833C>G
ENST00000638705.1:c.533C>G	ENSP00000491223.1:p.Thr178Ser
ENST00000638836.1:n.443C>G
ENST00000639055.1:n.1254C>G
ENST00000639251.1:n.434C>G
ENST00000639268.1:c.229-1934C>G
ENST00000639341.1:c.58C>G
ENST00000639770.1:c.571C>G	ENSP00000491999.1:n.571C>G
ENST00000640390.1:n.463C>G
ENST00000640893.1:c.372C>G	ENSP00000492677.1:p.Asn124Lys
ENST00000262493.10:c.533C>G	ENSP00000262493.6:p.Thr178Ser
ENST00000262494.11:c.533C>G	ENSP00000262494.7:p.Thr178Ser
ENST00000562316.5:c.272C>G	ENSP00000457238.1:p.Thr91Ser
NM_020988.2:c.533C>G	NP_066268.1:p.Thr178Ser
NM_138736.2:c.533C>G	NP_620073.2:p.Thr178Ser
XM_011523003.1:c.407C>G	XP_011521305.1:p.Thr136Ser
XM_011523003.3:c.407C>G	XP_011521305.1:p.Thr136Ser
NM_020988.3:c.533C>G MANE Select	NP_066268.1:p.Thr178Ser
NM_138736.3:c.533C>G	NP_620073.2:p.Thr178Ser