Canonical Allele Identifier: CA395951460

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368682A>T (hg19) ; chr16:g.56334770A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334770A>T , CM000678.2:g.56334770A>T	GRCh38
NC_000016.9:g.56368682A>T , CM000678.1:g.56368682A>T	GRCh37
NC_000016.8:g.54926183A>T	NCBI36
NG_042800.1:g.148432A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.506A>T	ENSP00000262494.7:p.Gln169Leu
ENST00000262493.12:c.506A>T MANE Select	ENSP00000262493.6:p.Gln169Leu
ENST00000262494.12:c.506A>T	ENSP00000262494.7:p.Gln169Leu
ENST00000562316.6:c.173A>T	ENSP00000457238.2:p.Gln58Leu
ENST00000638185.1:n.721A>T
ENST00000638210.1:n.806A>T
ENST00000638705.1:c.506A>T	ENSP00000491223.1:p.Gln169Leu
ENST00000638836.1:n.416A>T
ENST00000639055.1:n.1227A>T
ENST00000639251.1:n.407A>T
ENST00000639268.1:c.229-1961A>T
ENST00000639341.1:c.31A>T
ENST00000639770.1:c.544A>T	ENSP00000491999.1:n.544A>T
ENST00000640390.1:n.436A>T
ENST00000640893.1:c.345A>T	ENSP00000492677.1:p.Pro115=
ENST00000262493.10:c.506A>T	ENSP00000262493.6:p.Gln169Leu
ENST00000262494.11:c.506A>T	ENSP00000262494.7:p.Gln169Leu
ENST00000562316.5:c.245A>T	ENSP00000457238.1:p.Gln82Leu
ENST00000563440.1:c.245A>T	ENSP00000455774.1:p.Gln82Leu
ENST00000565363.5:c.380A>T	ENSP00000454728.1:p.Gln127Leu
NM_020988.2:c.506A>T	NP_066268.1:p.Gln169Leu
NM_138736.2:c.506A>T	NP_620073.2:p.Gln169Leu
XM_011523003.1:c.380A>T	XP_011521305.1:p.Gln127Leu
XM_011523003.3:c.380A>T	XP_011521305.1:p.Gln127Leu
NM_020988.3:c.506A>T MANE Select	NP_066268.1:p.Gln169Leu
NM_138736.3:c.506A>T	NP_620073.2:p.Gln169Leu