Canonical Allele Identifier: CA395954844

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385407A>G (hg19) ; chr16:g.56351495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351495A>G , CM000678.2:g.56351495A>G	GRCh38
NC_000016.9:g.56385407A>G , CM000678.1:g.56385407A>G	GRCh37
NC_000016.8:g.54942908A>G	NCBI36
NG_042800.1:g.165157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.835A>G MANE Select	ENSP00000262493.6:p.Ile279Val
ENST00000562316.6:c.502A>G	ENSP00000457238.2:p.Ile168Val
ENST00000564727.2:c.139A>G	ENSP00000454971.2:p.Ile47Val
ENST00000568375.2:c.116-3371A>G
ENST00000638185.1:n.1050A>G
ENST00000638210.1:n.1135A>G
ENST00000638705.1:c.835A>G	ENSP00000491223.1:p.Ile279Val
ENST00000638836.1:n.745A>G
ENST00000639055.1:n.1556A>G
ENST00000639251.1:n.736A>G
ENST00000639268.1:c.470A>G
ENST00000639341.1:c.360A>G
ENST00000639770.1:c.873A>G	ENSP00000491999.1:n.873A>G
ENST00000640390.1:n.765A>G
ENST00000640469.1:c.199A>G	ENSP00000491875.1:p.Ile67Val
ENST00000640560.1:n.611A>G
ENST00000640893.1:c.*233A>G	ENSP00000492677.1:n.*233A>G
ENST00000262493.10:c.835A>G	ENSP00000262493.6:p.Ile279Val
ENST00000564727.1:c.55A>G	ENSP00000454971.1:p.Ile19Val
ENST00000568375.1:n.116-3371A>G
NM_020988.2:c.835A>G	NP_066268.1:p.Ile279Val
XM_011523003.1:c.709A>G	XP_011521305.1:p.Ile237Val
XM_011523003.3:c.709A>G	XP_011521305.1:p.Ile237Val
NM_020988.3:c.835A>G MANE Select	NP_066268.1:p.Ile279Val