Canonical Allele Identifier: CA395954708

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385350T>G (hg19) ; chr16:g.56351438T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351438T>G , CM000678.2:g.56351438T>G	GRCh38
NC_000016.9:g.56385350T>G , CM000678.1:g.56385350T>G	GRCh37
NC_000016.8:g.54942851T>G	NCBI36
NG_042800.1:g.165100T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.778T>G MANE Select	ENSP00000262493.6:p.Phe260Val
ENST00000562316.6:c.445T>G	ENSP00000457238.2:p.Phe149Val
ENST00000564727.2:c.82T>G	ENSP00000454971.2:p.Phe28Val
ENST00000568375.2:c.116-3428T>G
ENST00000638185.1:n.993T>G
ENST00000638210.1:n.1078T>G
ENST00000638705.1:c.778T>G	ENSP00000491223.1:p.Phe260Val
ENST00000638836.1:n.688T>G
ENST00000639055.1:n.1499T>G
ENST00000639251.1:n.679T>G
ENST00000639268.1:c.413T>G
ENST00000639341.1:c.303T>G
ENST00000639770.1:c.816T>G	ENSP00000491999.1:n.816T>G
ENST00000640390.1:n.708T>G
ENST00000640469.1:c.142T>G	ENSP00000491875.1:p.Phe48Val
ENST00000640560.1:n.554T>G
ENST00000640893.1:c.*176T>G	ENSP00000492677.1:n.*176T>G
ENST00000262493.10:c.778T>G	ENSP00000262493.6:p.Phe260Val
ENST00000568375.1:n.116-3428T>G
NM_020988.2:c.778T>G	NP_066268.1:p.Phe260Val
XM_011523003.1:c.652T>G	XP_011521305.1:p.Phe218Val
XM_011523003.3:c.652T>G	XP_011521305.1:p.Phe218Val
NM_020988.3:c.778T>G MANE Select	NP_066268.1:p.Phe260Val