Canonical Allele Identifier: CA395951589

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368718A>G (hg19) ; chr16:g.56334806A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334806A>G , CM000678.2:g.56334806A>G	GRCh38
NC_000016.9:g.56368718A>G , CM000678.1:g.56368718A>G	GRCh37
NC_000016.8:g.54926219A>G	NCBI36
NG_042800.1:g.148468A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.542A>G	ENSP00000262494.7:p.Lys181Arg
ENST00000262493.12:c.542A>G MANE Select	ENSP00000262493.6:p.Lys181Arg
ENST00000262494.12:c.542A>G	ENSP00000262494.7:p.Lys181Arg
ENST00000562316.6:c.209A>G	ENSP00000457238.2:p.Lys70Arg
ENST00000638185.1:n.757A>G
ENST00000638210.1:n.842A>G
ENST00000638705.1:c.542A>G	ENSP00000491223.1:p.Lys181Arg
ENST00000638836.1:n.452A>G
ENST00000639055.1:n.1263A>G
ENST00000639251.1:n.443A>G
ENST00000639268.1:c.229-1925A>G
ENST00000639341.1:c.67A>G
ENST00000639770.1:c.580A>G	ENSP00000491999.1:n.580A>G
ENST00000640390.1:n.472A>G
ENST00000640893.1:c.381A>G	ENSP00000492677.1:p.Gln127=
ENST00000262493.10:c.542A>G	ENSP00000262493.6:p.Lys181Arg
ENST00000262494.11:c.542A>G	ENSP00000262494.7:p.Lys181Arg
ENST00000562316.5:c.281A>G	ENSP00000457238.1:p.Lys94Arg
NM_020988.2:c.542A>G	NP_066268.1:p.Lys181Arg
NM_138736.2:c.542A>G	NP_620073.2:p.Lys181Arg
XM_011523003.1:c.416A>G	XP_011521305.1:p.Lys139Arg
XM_011523003.3:c.416A>G	XP_011521305.1:p.Lys139Arg
NM_020988.3:c.542A>G MANE Select	NP_066268.1:p.Lys181Arg
NM_138736.3:c.542A>G	NP_620073.2:p.Lys181Arg