Canonical Allele Identifier: CA395955045

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388820A>C (hg19) ; chr16:g.56354908A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354908A>C , CM000678.2:g.56354908A>C	GRCh38
NC_000016.9:g.56388820A>C , CM000678.1:g.56388820A>C	GRCh37
NC_000016.8:g.54946321A>C	NCBI36
NG_042800.1:g.168570A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.920A>C MANE Select	ENSP00000262493.6:p.Gln307Pro
ENST00000562316.6:c.545-1195A>C	ENSP00000457238.2:n.545-1195A>C
ENST00000564727.2:c.224A>C	ENSP00000454971.2:p.Gln75Pro
ENST00000568375.2:c.158A>C
ENST00000638185.1:n.1135A>C
ENST00000638210.1:n.1220A>C
ENST00000638705.1:c.920A>C	ENSP00000491223.1:p.Gln307Pro
ENST00000638836.1:n.830A>C
ENST00000639055.1:n.1641A>C
ENST00000639251.1:n.821A>C
ENST00000639268.1:c.555A>C
ENST00000639341.1:c.445A>C
ENST00000639770.1:c.958A>C	ENSP00000491999.1:n.958A>C
ENST00000640390.1:n.850A>C
ENST00000640469.1:c.284A>C	ENSP00000491875.1:p.Gln95Pro
ENST00000640560.1:n.696A>C
ENST00000640893.1:c.*318A>C	ENSP00000492677.1:n.*318A>C
ENST00000262493.10:c.920A>C	ENSP00000262493.6:p.Gln307Pro
ENST00000564727.1:c.140A>C	ENSP00000454971.1:p.Gln47Pro
ENST00000568375.1:n.158A>C
NM_020988.2:c.920A>C	NP_066268.1:p.Gln307Pro
XM_011523003.1:c.794A>C	XP_011521305.1:p.Gln265Pro
XM_011523003.3:c.794A>C	XP_011521305.1:p.Gln265Pro
NM_020988.3:c.920A>C MANE Select	NP_066268.1:p.Gln307Pro