Canonical Allele Identifier: CA495573671

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336842-C-T
• COSMIC: COSM5587883 ; COSM5587884
• MyVariant Identifiers: chr16:g.56370754C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336842C>T , CM000678.2:g.56336842C>T	GRCh38
NC_000016.9:g.56370754C>T , CM000678.1:g.56370754C>T	GRCh37
NC_000016.8:g.54928255C>T	NCBI36
NG_042800.1:g.150504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.705C>T	ENSP00000262494.7:p.Leu235=
ENST00000262493.12:c.705C>T MANE Select	ENSP00000262493.6:p.Leu235=
ENST00000262494.12:c.705C>T	ENSP00000262494.7:p.Leu235=
ENST00000562316.6:c.372C>T	ENSP00000457238.2:p.Leu124=
ENST00000564727.2:c.9C>T	ENSP00000454971.2:p.Leu3=
ENST00000568375.2:c.97C>T
ENST00000638185.1:n.920C>T
ENST00000638210.1:n.1005C>T
ENST00000638705.1:c.705C>T	ENSP00000491223.1:p.Leu235=
ENST00000638836.1:n.615C>T
ENST00000639055.1:n.1426C>T
ENST00000639251.1:n.606C>T
ENST00000639268.1:c.340C>T
ENST00000639341.1:c.230C>T
ENST00000639770.1:c.743C>T	ENSP00000491999.1:n.743C>T
ENST00000640390.1:n.635C>T
ENST00000640469.1:c.69C>T	ENSP00000491875.1:p.Leu23=
ENST00000640560.1:n.481C>T
ENST00000640893.1:c.*103C>T	ENSP00000492677.1:n.*103C>T
ENST00000262493.10:c.705C>T	ENSP00000262493.6:p.Leu235=
ENST00000262494.11:c.705C>T	ENSP00000262494.7:p.Leu235=
ENST00000568375.1:n.97C>T
NM_020988.2:c.705C>T	NP_066268.1:p.Leu235=
NM_138736.2:c.705C>T	NP_620073.2:p.Leu235=
XM_011523003.1:c.579C>T	XP_011521305.1:p.Leu193=
XM_011523003.3:c.579C>T	XP_011521305.1:p.Leu193=
NM_020988.3:c.705C>T MANE Select	NP_066268.1:p.Leu235=
NM_138736.3:c.705C>T	NP_620073.2:p.Leu235=