Canonical Allele Identifier: CA395955451

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388957T>G (hg19) ; chr16:g.56355045T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355045T>G , CM000678.2:g.56355045T>G	GRCh38
NC_000016.9:g.56388957T>G , CM000678.1:g.56388957T>G	GRCh37
NC_000016.8:g.54946458T>G	NCBI36
NG_042800.1:g.168707T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1057T>G MANE Select	ENSP00000262493.6:p.Leu353Val
ENST00000562316.6:c.545-1058T>G	ENSP00000457238.2:n.545-1058T>G
ENST00000564727.2:c.303+58T>G	ENSP00000454971.2:n.303+58T>G
ENST00000568375.2:c.295T>G
ENST00000638210.1:n.1357T>G
ENST00000638705.1:c.1057T>G	ENSP00000491223.1:p.Leu353Val
ENST00000638836.1:n.967T>G
ENST00000639251.1:n.958T>G
ENST00000639268.1:c.692T>G
ENST00000639341.1:c.582T>G
ENST00000639770.1:c.1095T>G	ENSP00000491999.1:n.1095T>G
ENST00000640390.1:n.987T>G
ENST00000640469.1:c.421T>G	ENSP00000491875.1:p.Leu141Val
ENST00000640560.1:n.833T>G
ENST00000640893.1:c.*455T>G	ENSP00000492677.1:n.*455T>G
ENST00000262493.10:c.1057T>G	ENSP00000262493.6:p.Leu353Val
ENST00000564727.1:c.277T>G	ENSP00000454971.1:p.Leu93Val
ENST00000568375.1:n.295T>G
NM_020988.2:c.1057T>G	NP_066268.1:p.Leu353Val
XM_011523003.1:c.931T>G	XP_011521305.1:p.Leu311Val
XM_011523003.3:c.931T>G	XP_011521305.1:p.Leu311Val
NM_020988.3:c.1057T>G MANE Select	NP_066268.1:p.Leu353Val