Canonical Allele Identifier: CA395955481

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388965A>C (hg19) ; chr16:g.56355053A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355053A>C , CM000678.2:g.56355053A>C	GRCh38
NC_000016.9:g.56388965A>C , CM000678.1:g.56388965A>C	GRCh37
NC_000016.8:g.54946466A>C	NCBI36
NG_042800.1:g.168715A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1065A>C MANE Select	ENSP00000262493.6:p.Ter355Cys
ENST00000562316.6:c.545-1050A>C	ENSP00000457238.2:n.545-1050A>C
ENST00000564727.2:c.303+66A>C	ENSP00000454971.2:n.303+66A>C
ENST00000568375.2:c.303A>C
ENST00000638210.1:n.1365A>C
ENST00000638705.1:c.1065A>C	ENSP00000491223.1:p.Ter355Cys
ENST00000638836.1:n.975A>C
ENST00000639251.1:n.966A>C
ENST00000639268.1:c.700A>C
ENST00000639341.1:c.590A>C
ENST00000639770.1:c.1103A>C	ENSP00000491999.1:n.1103A>C
ENST00000640390.1:n.995A>C
ENST00000640469.1:c.429A>C	ENSP00000491875.1:p.Ter143Cys
ENST00000640560.1:n.841A>C
ENST00000640893.1:c.*463A>C	ENSP00000492677.1:n.*463A>C
ENST00000262493.10:c.1065A>C	ENSP00000262493.6:p.Ter355Cys
ENST00000564727.1:c.285A>C	ENSP00000454971.1:p.Ter95Cys
ENST00000568375.1:n.303A>C
NM_020988.2:c.1065A>C	NP_066268.1:p.Ter355Cys
XM_011523003.1:c.939A>C	XP_011521305.1:p.Ter313Cys
XM_011523003.3:c.939A>C	XP_011521305.1:p.Ter313Cys
NM_020988.3:c.1065A>C MANE Select	NP_066268.1:p.Ter355Cys