Canonical Allele Identifier: CA395954871

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385419C>G (hg19) ; chr16:g.56351507C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351507C>G , CM000678.2:g.56351507C>G	GRCh38
NC_000016.9:g.56385419C>G , CM000678.1:g.56385419C>G	GRCh37
NC_000016.8:g.54942920C>G	NCBI36
NG_042800.1:g.165169C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.847C>G MANE Select	ENSP00000262493.6:p.Pro283Ala
ENST00000562316.6:c.514C>G	ENSP00000457238.2:p.Pro172Ala
ENST00000564727.2:c.151C>G	ENSP00000454971.2:p.Pro51Ala
ENST00000568375.2:c.116-3359C>G
ENST00000638185.1:n.1062C>G
ENST00000638210.1:n.1147C>G
ENST00000638705.1:c.847C>G	ENSP00000491223.1:p.Pro283Ala
ENST00000638836.1:n.757C>G
ENST00000639055.1:n.1568C>G
ENST00000639251.1:n.748C>G
ENST00000639268.1:c.482C>G
ENST00000639341.1:c.372C>G
ENST00000639770.1:c.885C>G	ENSP00000491999.1:n.885C>G
ENST00000640390.1:n.777C>G
ENST00000640469.1:c.211C>G	ENSP00000491875.1:p.Pro71Ala
ENST00000640560.1:n.623C>G
ENST00000640893.1:c.*245C>G	ENSP00000492677.1:n.*245C>G
ENST00000262493.10:c.847C>G	ENSP00000262493.6:p.Pro283Ala
ENST00000564727.1:c.67C>G	ENSP00000454971.1:p.Pro23Ala
ENST00000568375.1:n.116-3359C>G
NM_020988.2:c.847C>G	NP_066268.1:p.Pro283Ala
XM_011523003.1:c.721C>G	XP_011521305.1:p.Pro241Ala
XM_011523003.3:c.721C>G	XP_011521305.1:p.Pro241Ala
NM_020988.3:c.847C>G MANE Select	NP_066268.1:p.Pro283Ala