Canonical Allele Identifier: CA395955074

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388831A>T (hg19) ; chr16:g.56354919A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354919A>T , CM000678.2:g.56354919A>T	GRCh38
NC_000016.9:g.56388831A>T , CM000678.1:g.56388831A>T	GRCh37
NC_000016.8:g.54946332A>T	NCBI36
NG_042800.1:g.168581A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.931A>T MANE Select	ENSP00000262493.6:p.Lys311Ter
ENST00000562316.6:c.545-1184A>T	ENSP00000457238.2:n.545-1184A>T
ENST00000564727.2:c.235A>T	ENSP00000454971.2:p.Lys79Ter
ENST00000568375.2:c.169A>T
ENST00000638185.1:n.1146A>T
ENST00000638210.1:n.1231A>T
ENST00000638705.1:c.931A>T	ENSP00000491223.1:p.Lys311Ter
ENST00000638836.1:n.841A>T
ENST00000639055.1:n.1652A>T
ENST00000639251.1:n.832A>T
ENST00000639268.1:c.566A>T
ENST00000639341.1:c.456A>T
ENST00000639770.1:c.969A>T	ENSP00000491999.1:n.969A>T
ENST00000640390.1:n.861A>T
ENST00000640469.1:c.295A>T	ENSP00000491875.1:p.Lys99Ter
ENST00000640560.1:n.707A>T
ENST00000640893.1:c.*329A>T	ENSP00000492677.1:n.*329A>T
ENST00000262493.10:c.931A>T	ENSP00000262493.6:p.Lys311Ter
ENST00000564727.1:c.151A>T	ENSP00000454971.1:p.Lys51Ter
ENST00000568375.1:n.169A>T
NM_020988.2:c.931A>T	NP_066268.1:p.Lys311Ter
XM_011523003.1:c.805A>T	XP_011521305.1:p.Lys269Ter
XM_011523003.3:c.805A>T	XP_011521305.1:p.Lys269Ter
NM_020988.3:c.931A>T MANE Select	NP_066268.1:p.Lys311Ter