Canonical Allele Identifier: CA395951563

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368712G>C (hg19) ; chr16:g.56334800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334800G>C , CM000678.2:g.56334800G>C	GRCh38
NC_000016.9:g.56368712G>C , CM000678.1:g.56368712G>C	GRCh37
NC_000016.8:g.54926213G>C	NCBI36
NG_042800.1:g.148462G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.536G>C	ENSP00000262494.7:p.Arg179Thr
ENST00000262493.12:c.536G>C MANE Select	ENSP00000262493.6:p.Arg179Thr
ENST00000262494.12:c.536G>C	ENSP00000262494.7:p.Arg179Thr
ENST00000562316.6:c.203G>C	ENSP00000457238.2:p.Arg68Thr
ENST00000638185.1:n.751G>C
ENST00000638210.1:n.836G>C
ENST00000638705.1:c.536G>C	ENSP00000491223.1:p.Arg179Thr
ENST00000638836.1:n.446G>C
ENST00000639055.1:n.1257G>C
ENST00000639251.1:n.437G>C
ENST00000639268.1:c.229-1931G>C
ENST00000639341.1:c.61G>C
ENST00000639770.1:c.574G>C	ENSP00000491999.1:n.574G>C
ENST00000640390.1:n.466G>C
ENST00000640893.1:c.375G>C	ENSP00000492677.1:p.Gln125His
ENST00000262493.10:c.536G>C	ENSP00000262493.6:p.Arg179Thr
ENST00000262494.11:c.536G>C	ENSP00000262494.7:p.Arg179Thr
ENST00000562316.5:c.275G>C	ENSP00000457238.1:p.Arg92Thr
NM_020988.2:c.536G>C	NP_066268.1:p.Arg179Thr
NM_138736.2:c.536G>C	NP_620073.2:p.Arg179Thr
XM_011523003.1:c.410G>C	XP_011521305.1:p.Arg137Thr
XM_011523003.3:c.410G>C	XP_011521305.1:p.Arg137Thr
NM_020988.3:c.536G>C MANE Select	NP_066268.1:p.Arg179Thr
NM_138736.3:c.536G>C	NP_620073.2:p.Arg179Thr