Canonical Allele Identifier: CA395954718

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385354T>C (hg19) ; chr16:g.56351442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351442T>C , CM000678.2:g.56351442T>C	GRCh38
NC_000016.9:g.56385354T>C , CM000678.1:g.56385354T>C	GRCh37
NC_000016.8:g.54942855T>C	NCBI36
NG_042800.1:g.165104T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.782T>C MANE Select	ENSP00000262493.6:p.Ile261Thr
ENST00000562316.6:c.449T>C	ENSP00000457238.2:p.Ile150Thr
ENST00000564727.2:c.86T>C	ENSP00000454971.2:p.Ile29Thr
ENST00000568375.2:c.116-3424T>C
ENST00000638185.1:n.997T>C
ENST00000638210.1:n.1082T>C
ENST00000638705.1:c.782T>C	ENSP00000491223.1:p.Ile261Thr
ENST00000638836.1:n.692T>C
ENST00000639055.1:n.1503T>C
ENST00000639251.1:n.683T>C
ENST00000639268.1:c.417T>C
ENST00000639341.1:c.307T>C
ENST00000639770.1:c.820T>C	ENSP00000491999.1:n.820T>C
ENST00000640390.1:n.712T>C
ENST00000640469.1:c.146T>C	ENSP00000491875.1:p.Ile49Thr
ENST00000640560.1:n.558T>C
ENST00000640893.1:c.*180T>C	ENSP00000492677.1:n.*180T>C
ENST00000262493.10:c.782T>C	ENSP00000262493.6:p.Ile261Thr
ENST00000564727.1:c.2T>C	ENSP00000454971.1:p.Ile1Thr
ENST00000568375.1:n.116-3424T>C
NM_020988.2:c.782T>C	NP_066268.1:p.Ile261Thr
XM_011523003.1:c.656T>C	XP_011521305.1:p.Ile219Thr
XM_011523003.3:c.656T>C	XP_011521305.1:p.Ile219Thr
NM_020988.3:c.782T>C MANE Select	NP_066268.1:p.Ile261Thr