Canonical Allele Identifier: CA395954792

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385386A>G (hg19) ; chr16:g.56351474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351474A>G , CM000678.2:g.56351474A>G	GRCh38
NC_000016.9:g.56385386A>G , CM000678.1:g.56385386A>G	GRCh37
NC_000016.8:g.54942887A>G	NCBI36
NG_042800.1:g.165136A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.814A>G MANE Select	ENSP00000262493.6:p.Lys272Glu
ENST00000562316.6:c.481A>G	ENSP00000457238.2:p.Lys161Glu
ENST00000564727.2:c.118A>G	ENSP00000454971.2:p.Lys40Glu
ENST00000568375.2:c.116-3392A>G
ENST00000638185.1:n.1029A>G
ENST00000638210.1:n.1114A>G
ENST00000638705.1:c.814A>G	ENSP00000491223.1:p.Lys272Glu
ENST00000638836.1:n.724A>G
ENST00000639055.1:n.1535A>G
ENST00000639251.1:n.715A>G
ENST00000639268.1:c.449A>G
ENST00000639341.1:c.339A>G
ENST00000639770.1:c.852A>G	ENSP00000491999.1:n.852A>G
ENST00000640390.1:n.744A>G
ENST00000640469.1:c.178A>G	ENSP00000491875.1:p.Lys60Glu
ENST00000640560.1:n.590A>G
ENST00000640893.1:c.*212A>G	ENSP00000492677.1:n.*212A>G
ENST00000262493.10:c.814A>G	ENSP00000262493.6:p.Lys272Glu
ENST00000564727.1:c.34A>G	ENSP00000454971.1:p.Lys12Glu
ENST00000568375.1:n.116-3392A>G
NM_020988.2:c.814A>G	NP_066268.1:p.Lys272Glu
XM_011523003.1:c.688A>G	XP_011521305.1:p.Lys230Glu
XM_011523003.3:c.688A>G	XP_011521305.1:p.Lys230Glu
NM_020988.3:c.814A>G MANE Select	NP_066268.1:p.Lys272Glu