Canonical Allele Identifier: CA395952244

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370692T>C (hg19) ; chr16:g.56336780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336780T>C , CM000678.2:g.56336780T>C	GRCh38
NC_000016.9:g.56370692T>C , CM000678.1:g.56370692T>C	GRCh37
NC_000016.8:g.54928193T>C	NCBI36
NG_042800.1:g.150442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.643T>C	ENSP00000262494.7:p.Cys215Arg
ENST00000262493.12:c.643T>C MANE Select	ENSP00000262493.6:p.Cys215Arg
ENST00000262494.12:c.643T>C	ENSP00000262494.7:p.Cys215Arg
ENST00000562316.6:c.310T>C	ENSP00000457238.2:p.Cys104Arg
ENST00000568375.2:c.35T>C
ENST00000638185.1:n.858T>C
ENST00000638210.1:n.943T>C
ENST00000638705.1:c.643T>C	ENSP00000491223.1:p.Cys215Arg
ENST00000638836.1:n.553T>C
ENST00000639055.1:n.1364T>C
ENST00000639251.1:n.544T>C
ENST00000639268.1:c.278T>C
ENST00000639341.1:c.168T>C
ENST00000639770.1:c.681T>C	ENSP00000491999.1:n.681T>C
ENST00000640390.1:n.573T>C
ENST00000640469.1:c.7T>C	ENSP00000491875.1:p.Cys3Arg
ENST00000640560.1:n.419T>C
ENST00000640893.1:c.*41T>C	ENSP00000492677.1:n.*41T>C
ENST00000262493.10:c.643T>C	ENSP00000262493.6:p.Cys215Arg
ENST00000262494.11:c.643T>C	ENSP00000262494.7:p.Cys215Arg
ENST00000568375.1:n.35T>C
NM_020988.2:c.643T>C	NP_066268.1:p.Cys215Arg
NM_138736.2:c.643T>C	NP_620073.2:p.Cys215Arg
XM_011523003.1:c.517T>C	XP_011521305.1:p.Cys173Arg
XM_011523003.3:c.517T>C	XP_011521305.1:p.Cys173Arg
NM_020988.3:c.643T>C MANE Select	NP_066268.1:p.Cys215Arg
NM_138736.3:c.643T>C	NP_620073.2:p.Cys215Arg