Canonical Allele Identifier: CA395954932

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385446A>G (hg19) ; chr16:g.56351534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351534A>G , CM000678.2:g.56351534A>G	GRCh38
NC_000016.9:g.56385446A>G , CM000678.1:g.56385446A>G	GRCh37
NC_000016.8:g.54942947A>G	NCBI36
NG_042800.1:g.165196A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.874A>G MANE Select	ENSP00000262493.6:p.Thr292Ala
ENST00000562316.6:c.541A>G	ENSP00000457238.2:p.Thr181Ala
ENST00000564727.2:c.178A>G	ENSP00000454971.2:p.Thr60Ala
ENST00000568375.2:c.116-3332A>G
ENST00000638185.1:n.1089A>G
ENST00000638210.1:n.1174A>G
ENST00000638705.1:c.874A>G	ENSP00000491223.1:p.Thr292Ala
ENST00000638836.1:n.784A>G
ENST00000639055.1:n.1595A>G
ENST00000639251.1:n.775A>G
ENST00000639268.1:c.509A>G
ENST00000639341.1:c.399A>G
ENST00000639770.1:c.912A>G	ENSP00000491999.1:n.912A>G
ENST00000640390.1:n.804A>G
ENST00000640469.1:c.238A>G	ENSP00000491875.1:p.Thr80Ala
ENST00000640560.1:n.650A>G
ENST00000640893.1:c.*272A>G	ENSP00000492677.1:n.*272A>G
ENST00000262493.10:c.874A>G	ENSP00000262493.6:p.Thr292Ala
ENST00000564727.1:c.94A>G	ENSP00000454971.1:p.Thr32Ala
ENST00000568375.1:n.116-3332A>G
NM_020988.2:c.874A>G	NP_066268.1:p.Thr292Ala
XM_011523003.1:c.748A>G	XP_011521305.1:p.Thr250Ala
XM_011523003.3:c.748A>G	XP_011521305.1:p.Thr250Ala
NM_020988.3:c.874A>G MANE Select	NP_066268.1:p.Thr292Ala