Canonical Allele Identifier: CA395954819

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385397T>G (hg19) ; chr16:g.56351485T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351485T>G , CM000678.2:g.56351485T>G	GRCh38
NC_000016.9:g.56385397T>G , CM000678.1:g.56385397T>G	GRCh37
NC_000016.8:g.54942898T>G	NCBI36
NG_042800.1:g.165147T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.825T>G MANE Select	ENSP00000262493.6:p.Phe275Leu
ENST00000562316.6:c.492T>G	ENSP00000457238.2:p.Phe164Leu
ENST00000564727.2:c.129T>G	ENSP00000454971.2:p.Phe43Leu
ENST00000568375.2:c.116-3381T>G
ENST00000638185.1:n.1040T>G
ENST00000638210.1:n.1125T>G
ENST00000638705.1:c.825T>G	ENSP00000491223.1:p.Phe275Leu
ENST00000638836.1:n.735T>G
ENST00000639055.1:n.1546T>G
ENST00000639251.1:n.726T>G
ENST00000639268.1:c.460T>G
ENST00000639341.1:c.350T>G
ENST00000639770.1:c.863T>G	ENSP00000491999.1:n.863T>G
ENST00000640390.1:n.755T>G
ENST00000640469.1:c.189T>G	ENSP00000491875.1:p.Phe63Leu
ENST00000640560.1:n.601T>G
ENST00000640893.1:c.*223T>G	ENSP00000492677.1:n.*223T>G
ENST00000262493.10:c.825T>G	ENSP00000262493.6:p.Phe275Leu
ENST00000564727.1:c.45T>G	ENSP00000454971.1:p.Phe15Leu
ENST00000568375.1:n.116-3381T>G
NM_020988.2:c.825T>G	NP_066268.1:p.Phe275Leu
XM_011523003.1:c.699T>G	XP_011521305.1:p.Phe233Leu
XM_011523003.3:c.699T>G	XP_011521305.1:p.Phe233Leu
NM_020988.3:c.825T>G MANE Select	NP_066268.1:p.Phe275Leu