Canonical Allele Identifier: CA495573609

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370706C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336794C>G , CM000678.2:g.56336794C>G	GRCh38
NC_000016.9:g.56370706C>G , CM000678.1:g.56370706C>G	GRCh37
NC_000016.8:g.54928207C>G	NCBI36
NG_042800.1:g.150456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.657C>G	ENSP00000262494.7:p.Val219=
ENST00000262493.12:c.657C>G MANE Select	ENSP00000262493.6:p.Val219=
ENST00000262494.12:c.657C>G	ENSP00000262494.7:p.Val219=
ENST00000562316.6:c.324C>G	ENSP00000457238.2:p.Val108=
ENST00000568375.2:c.49C>G
ENST00000638185.1:n.872C>G
ENST00000638210.1:n.957C>G
ENST00000638705.1:c.657C>G	ENSP00000491223.1:p.Val219=
ENST00000638836.1:n.567C>G
ENST00000639055.1:n.1378C>G
ENST00000639251.1:n.558C>G
ENST00000639268.1:c.292C>G
ENST00000639341.1:c.182C>G
ENST00000639770.1:c.695C>G	ENSP00000491999.1:n.695C>G
ENST00000640390.1:n.587C>G
ENST00000640469.1:c.21C>G	ENSP00000491875.1:p.Val7=
ENST00000640560.1:n.433C>G
ENST00000640893.1:c.*55C>G	ENSP00000492677.1:n.*55C>G
ENST00000262493.10:c.657C>G	ENSP00000262493.6:p.Val219=
ENST00000262494.11:c.657C>G	ENSP00000262494.7:p.Val219=
ENST00000568375.1:n.49C>G
NM_020988.2:c.657C>G	NP_066268.1:p.Val219=
NM_138736.2:c.657C>G	NP_620073.2:p.Val219=
XM_011523003.1:c.531C>G	XP_011521305.1:p.Val177=
XM_011523003.3:c.531C>G	XP_011521305.1:p.Val177=
NM_020988.3:c.657C>G MANE Select	NP_066268.1:p.Val219=
NM_138736.3:c.657C>G	NP_620073.2:p.Val219=