Canonical Allele Identifier: CA395951553

Gene: GNAO1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.533C>T	ENSP00000262494.7:p.Thr178Ile
ENST00000262493.12:c.533C>T MANE Select	ENSP00000262493.6:p.Thr178Ile
ENST00000262494.12:c.533C>T	ENSP00000262494.7:p.Thr178Ile
ENST00000562316.6:c.200C>T	ENSP00000457238.2:p.Thr67Ile
ENST00000638185.1:n.748C>T
ENST00000638210.1:n.833C>T
ENST00000638705.1:c.533C>T	ENSP00000491223.1:p.Thr178Ile
ENST00000638836.1:n.443C>T
ENST00000639055.1:n.1254C>T
ENST00000639251.1:n.434C>T
ENST00000639268.1:c.229-1934C>T
ENST00000639341.1:c.58C>T
ENST00000639770.1:c.571C>T	ENSP00000491999.1:n.571C>T
ENST00000640390.1:n.463C>T
ENST00000640893.1:c.372C>T	ENSP00000492677.1:p.Asn124=
ENST00000262493.10:c.533C>T	ENSP00000262493.6:p.Thr178Ile
ENST00000262494.11:c.533C>T	ENSP00000262494.7:p.Thr178Ile
ENST00000562316.5:c.272C>T	ENSP00000457238.1:p.Thr91Ile
NM_020988.2:c.533C>T	NP_066268.1:p.Thr178Ile
NM_138736.2:c.533C>T	NP_620073.2:p.Thr178Ile
XM_011523003.1:c.407C>T	XP_011521305.1:p.Thr136Ile
XM_011523003.3:c.407C>T	XP_011521305.1:p.Thr136Ile
NM_020988.3:c.533C>T MANE Select	NP_066268.1:p.Thr178Ile
NM_138736.3:c.533C>T	NP_620073.2:p.Thr178Ile