Canonical Allele Identifier: CA395955450

Gene: GNAO1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1057T>A MANE Select	ENSP00000262493.6:p.Leu353Met
ENST00000562316.6:c.545-1058T>A	ENSP00000457238.2:n.545-1058T>A
ENST00000564727.2:c.303+58T>A	ENSP00000454971.2:n.303+58T>A
ENST00000568375.2:c.295T>A
ENST00000638210.1:n.1357T>A
ENST00000638705.1:c.1057T>A	ENSP00000491223.1:p.Leu353Met
ENST00000638836.1:n.967T>A
ENST00000639251.1:n.958T>A
ENST00000639268.1:c.692T>A
ENST00000639341.1:c.582T>A
ENST00000639770.1:c.1095T>A	ENSP00000491999.1:n.1095T>A
ENST00000640390.1:n.987T>A
ENST00000640469.1:c.421T>A	ENSP00000491875.1:p.Leu141Met
ENST00000640560.1:n.833T>A
ENST00000640893.1:c.*455T>A	ENSP00000492677.1:n.*455T>A
ENST00000262493.10:c.1057T>A	ENSP00000262493.6:p.Leu353Met
ENST00000564727.1:c.277T>A	ENSP00000454971.1:p.Leu93Met
ENST00000568375.1:n.295T>A
NM_020988.2:c.1057T>A	NP_066268.1:p.Leu353Met
XM_011523003.1:c.931T>A	XP_011521305.1:p.Leu311Met
XM_011523003.3:c.931T>A	XP_011521305.1:p.Leu311Met
NM_020988.3:c.1057T>A MANE Select	NP_066268.1:p.Leu353Met