Canonical Allele Identifier: CA495573500

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368705C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334793C>A , CM000678.2:g.56334793C>A	GRCh38
NC_000016.9:g.56368705C>A , CM000678.1:g.56368705C>A	GRCh37
NC_000016.8:g.54926206C>A	NCBI36
NG_042800.1:g.148455C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.529C>A	ENSP00000262494.7:p.Arg177=
ENST00000262493.12:c.529C>A MANE Select	ENSP00000262493.6:p.Arg177=
ENST00000262494.12:c.529C>A	ENSP00000262494.7:p.Arg177=
ENST00000562316.6:c.196C>A	ENSP00000457238.2:p.Arg66=
ENST00000638185.1:n.744C>A
ENST00000638210.1:n.829C>A
ENST00000638705.1:c.529C>A	ENSP00000491223.1:p.Arg177=
ENST00000638836.1:n.439C>A
ENST00000639055.1:n.1250C>A
ENST00000639251.1:n.430C>A
ENST00000639268.1:c.229-1938C>A
ENST00000639341.1:c.54C>A
ENST00000639770.1:c.567C>A	ENSP00000491999.1:n.567C>A
ENST00000640390.1:n.459C>A
ENST00000640893.1:c.368C>A	ENSP00000492677.1:p.Pro123Gln
ENST00000262493.10:c.529C>A	ENSP00000262493.6:p.Arg177=
ENST00000262494.11:c.529C>A	ENSP00000262494.7:p.Arg177=
ENST00000562316.5:c.268C>A	ENSP00000457238.1:p.Arg90=
NM_020988.2:c.529C>A	NP_066268.1:p.Arg177=
NM_138736.2:c.529C>A	NP_620073.2:p.Arg177=
XM_011523003.1:c.403C>A	XP_011521305.1:p.Arg135=
XM_011523003.3:c.403C>A	XP_011521305.1:p.Arg135=
NM_020988.3:c.529C>A MANE Select	NP_066268.1:p.Arg177=
NM_138736.3:c.529C>A	NP_620073.2:p.Arg177=