Canonical Allele Identifier: CA395952314

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370722T>C (hg19) ; chr16:g.56336810T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336810T>C , CM000678.2:g.56336810T>C	GRCh38
NC_000016.9:g.56370722T>C , CM000678.1:g.56370722T>C	GRCh37
NC_000016.8:g.54928223T>C	NCBI36
NG_042800.1:g.150472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.673T>C	ENSP00000262494.7:p.Cys225Arg
ENST00000262493.12:c.673T>C MANE Select	ENSP00000262493.6:p.Cys225Arg
ENST00000262494.12:c.673T>C	ENSP00000262494.7:p.Cys225Arg
ENST00000562316.6:c.340T>C	ENSP00000457238.2:p.Cys114Arg
ENST00000568375.2:c.65T>C
ENST00000638185.1:n.888T>C
ENST00000638210.1:n.973T>C
ENST00000638705.1:c.673T>C	ENSP00000491223.1:p.Cys225Arg
ENST00000638836.1:n.583T>C
ENST00000639055.1:n.1394T>C
ENST00000639251.1:n.574T>C
ENST00000639268.1:c.308T>C
ENST00000639341.1:c.198T>C
ENST00000639770.1:c.711T>C	ENSP00000491999.1:n.711T>C
ENST00000640390.1:n.603T>C
ENST00000640469.1:c.37T>C	ENSP00000491875.1:p.Cys13Arg
ENST00000640560.1:n.449T>C
ENST00000640893.1:c.*71T>C	ENSP00000492677.1:n.*71T>C
ENST00000262493.10:c.673T>C	ENSP00000262493.6:p.Cys225Arg
ENST00000262494.11:c.673T>C	ENSP00000262494.7:p.Cys225Arg
ENST00000568375.1:n.65T>C
NM_020988.2:c.673T>C	NP_066268.1:p.Cys225Arg
NM_138736.2:c.673T>C	NP_620073.2:p.Cys225Arg
XM_011523003.1:c.547T>C	XP_011521305.1:p.Cys183Arg
XM_011523003.3:c.547T>C	XP_011521305.1:p.Cys183Arg
NM_020988.3:c.673T>C MANE Select	NP_066268.1:p.Cys225Arg
NM_138736.3:c.673T>C	NP_620073.2:p.Cys225Arg