Canonical Allele Identifier: CA495573689

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370772G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336860G>C , CM000678.2:g.56336860G>C	GRCh38
NC_000016.9:g.56370772G>C , CM000678.1:g.56370772G>C	GRCh37
NC_000016.8:g.54928273G>C	NCBI36
NG_042800.1:g.150522G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.723G>C	ENSP00000262494.7:p.Thr241=
ENST00000262493.12:c.723G>C MANE Select	ENSP00000262493.6:p.Thr241=
ENST00000262494.12:c.723G>C	ENSP00000262494.7:p.Thr241=
ENST00000562316.6:c.390G>C	ENSP00000457238.2:p.Thr130=
ENST00000564727.2:c.27G>C	ENSP00000454971.2:p.Thr9=
ENST00000568375.2:c.115G>C
ENST00000638185.1:n.938G>C
ENST00000638210.1:n.1023G>C
ENST00000638705.1:c.723G>C	ENSP00000491223.1:p.Thr241=
ENST00000638836.1:n.633G>C
ENST00000639055.1:n.1444G>C
ENST00000639251.1:n.624G>C
ENST00000639268.1:c.358G>C
ENST00000639341.1:c.248G>C
ENST00000639770.1:c.761G>C	ENSP00000491999.1:n.761G>C
ENST00000640390.1:n.653G>C
ENST00000640469.1:c.87G>C	ENSP00000491875.1:p.Thr29=
ENST00000640560.1:n.499G>C
ENST00000640893.1:c.*121G>C	ENSP00000492677.1:n.*121G>C
ENST00000262493.10:c.723G>C	ENSP00000262493.6:p.Thr241=
ENST00000262494.11:c.723G>C	ENSP00000262494.7:p.Thr241=
ENST00000568375.1:n.115G>C
NM_020988.2:c.723G>C	NP_066268.1:p.Thr241=
NM_138736.2:c.723G>C	NP_620073.2:p.Thr241=
XM_011523003.1:c.597G>C	XP_011521305.1:p.Thr199=
XM_011523003.3:c.597G>C	XP_011521305.1:p.Thr199=
NM_020988.3:c.723G>C MANE Select	NP_066268.1:p.Thr241=
NM_138736.3:c.723G>C	NP_620073.2:p.Thr241=