Canonical Allele Identifier: CA395954857

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385413A>G (hg19) ; chr16:g.56351501A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351501A>G , CM000678.2:g.56351501A>G	GRCh38
NC_000016.9:g.56385413A>G , CM000678.1:g.56385413A>G	GRCh37
NC_000016.8:g.54942914A>G	NCBI36
NG_042800.1:g.165163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.841A>G MANE Select	ENSP00000262493.6:p.Lys281Glu
ENST00000562316.6:c.508A>G	ENSP00000457238.2:p.Lys170Glu
ENST00000564727.2:c.145A>G	ENSP00000454971.2:p.Lys49Glu
ENST00000568375.2:c.116-3365A>G
ENST00000638185.1:n.1056A>G
ENST00000638210.1:n.1141A>G
ENST00000638705.1:c.841A>G	ENSP00000491223.1:p.Lys281Glu
ENST00000638836.1:n.751A>G
ENST00000639055.1:n.1562A>G
ENST00000639251.1:n.742A>G
ENST00000639268.1:c.476A>G
ENST00000639341.1:c.366A>G
ENST00000639770.1:c.879A>G	ENSP00000491999.1:n.879A>G
ENST00000640390.1:n.771A>G
ENST00000640469.1:c.205A>G	ENSP00000491875.1:p.Lys69Glu
ENST00000640560.1:n.617A>G
ENST00000640893.1:c.*239A>G	ENSP00000492677.1:n.*239A>G
ENST00000262493.10:c.841A>G	ENSP00000262493.6:p.Lys281Glu
ENST00000564727.1:c.61A>G	ENSP00000454971.1:p.Lys21Glu
ENST00000568375.1:n.116-3365A>G
NM_020988.2:c.841A>G	NP_066268.1:p.Lys281Glu
XM_011523003.1:c.715A>G	XP_011521305.1:p.Lys239Glu
XM_011523003.3:c.715A>G	XP_011521305.1:p.Lys239Glu
NM_020988.3:c.841A>G MANE Select	NP_066268.1:p.Lys281Glu