Canonical Allele Identifier: CA395954665

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385334C>G (hg19) ; chr16:g.56351422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351422C>G , CM000678.2:g.56351422C>G	GRCh38
NC_000016.9:g.56385334C>G , CM000678.1:g.56385334C>G	GRCh37
NC_000016.8:g.54942835C>G	NCBI36
NG_042800.1:g.165084C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.762C>G MANE Select	ENSP00000262493.6:p.Ile254Met
ENST00000562316.6:c.429C>G	ENSP00000457238.2:p.Ile143Met
ENST00000564727.2:c.66C>G	ENSP00000454971.2:p.Ile22Met
ENST00000568375.2:c.116-3444C>G
ENST00000638185.1:n.977C>G
ENST00000638210.1:n.1062C>G
ENST00000638705.1:c.762C>G	ENSP00000491223.1:p.Ile254Met
ENST00000638836.1:n.672C>G
ENST00000639055.1:n.1483C>G
ENST00000639251.1:n.663C>G
ENST00000639268.1:c.397C>G
ENST00000639341.1:c.287C>G
ENST00000639770.1:c.800C>G	ENSP00000491999.1:n.800C>G
ENST00000640390.1:n.692C>G
ENST00000640469.1:c.126C>G	ENSP00000491875.1:p.Ile42Met
ENST00000640560.1:n.538C>G
ENST00000640893.1:c.*160C>G	ENSP00000492677.1:n.*160C>G
ENST00000262493.10:c.762C>G	ENSP00000262493.6:p.Ile254Met
ENST00000568375.1:n.116-3444C>G
NM_020988.2:c.762C>G	NP_066268.1:p.Ile254Met
XM_011523003.1:c.636C>G	XP_011521305.1:p.Ile212Met
XM_011523003.3:c.636C>G	XP_011521305.1:p.Ile212Met
NM_020988.3:c.762C>G MANE Select	NP_066268.1:p.Ile254Met