Canonical Allele Identifier: CA395954623

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385317A>G (hg19) ; chr16:g.56351405A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351405A>G , CM000678.2:g.56351405A>G	GRCh38
NC_000016.9:g.56385317A>G , CM000678.1:g.56385317A>G	GRCh37
NC_000016.8:g.54942818A>G	NCBI36
NG_042800.1:g.165067A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.745A>G MANE Select	ENSP00000262493.6:p.Met249Val
ENST00000562316.6:c.412A>G	ENSP00000457238.2:p.Met138Val
ENST00000564727.2:c.49A>G	ENSP00000454971.2:p.Met17Val
ENST00000568375.2:c.116-3461A>G
ENST00000638185.1:n.960A>G
ENST00000638210.1:n.1045A>G
ENST00000638705.1:c.745A>G	ENSP00000491223.1:p.Met249Val
ENST00000638836.1:n.655A>G
ENST00000639055.1:n.1466A>G
ENST00000639251.1:n.646A>G
ENST00000639268.1:c.380A>G
ENST00000639341.1:c.270A>G
ENST00000639770.1:c.783A>G	ENSP00000491999.1:n.783A>G
ENST00000640390.1:n.675A>G
ENST00000640469.1:c.109A>G	ENSP00000491875.1:p.Met37Val
ENST00000640560.1:n.521A>G
ENST00000640893.1:c.*143A>G	ENSP00000492677.1:n.*143A>G
ENST00000262493.10:c.745A>G	ENSP00000262493.6:p.Met249Val
ENST00000568375.1:n.116-3461A>G
NM_020988.2:c.745A>G	NP_066268.1:p.Met249Val
XM_011523003.1:c.619A>G	XP_011521305.1:p.Met207Val
XM_011523003.3:c.619A>G	XP_011521305.1:p.Met207Val
NM_020988.3:c.745A>G MANE Select	NP_066268.1:p.Met249Val