Canonical Allele Identifier: CA395952395

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336846-G-T
• MyVariant Identifiers: chr16:g.56370758G>T (hg19) ; chr16:g.56336846G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336846G>T , CM000678.2:g.56336846G>T	GRCh38
NC_000016.9:g.56370758G>T , CM000678.1:g.56370758G>T	GRCh37
NC_000016.8:g.54928259G>T	NCBI36
NG_042800.1:g.150508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.709G>T	ENSP00000262494.7:p.Glu237Ter
ENST00000262493.12:c.709G>T MANE Select	ENSP00000262493.6:p.Glu237Ter
ENST00000262494.12:c.709G>T	ENSP00000262494.7:p.Glu237Ter
ENST00000562316.6:c.376G>T	ENSP00000457238.2:p.Glu126Ter
ENST00000564727.2:c.13G>T	ENSP00000454971.2:p.Glu5Ter
ENST00000568375.2:c.101G>T
ENST00000638185.1:n.924G>T
ENST00000638210.1:n.1009G>T
ENST00000638705.1:c.709G>T	ENSP00000491223.1:p.Glu237Ter
ENST00000638836.1:n.619G>T
ENST00000639055.1:n.1430G>T
ENST00000639251.1:n.610G>T
ENST00000639268.1:c.344G>T
ENST00000639341.1:c.234G>T
ENST00000639770.1:c.747G>T	ENSP00000491999.1:n.747G>T
ENST00000640390.1:n.639G>T
ENST00000640469.1:c.73G>T	ENSP00000491875.1:p.Glu25Ter
ENST00000640560.1:n.485G>T
ENST00000640893.1:c.*107G>T	ENSP00000492677.1:n.*107G>T
ENST00000262493.10:c.709G>T	ENSP00000262493.6:p.Glu237Ter
ENST00000262494.11:c.709G>T	ENSP00000262494.7:p.Glu237Ter
ENST00000568375.1:n.101G>T
NM_020988.2:c.709G>T	NP_066268.1:p.Glu237Ter
NM_138736.2:c.709G>T	NP_620073.2:p.Glu237Ter
XM_011523003.1:c.583G>T	XP_011521305.1:p.Glu195Ter
XM_011523003.3:c.583G>T	XP_011521305.1:p.Glu195Ter
NM_020988.3:c.709G>T MANE Select	NP_066268.1:p.Glu237Ter
NM_138736.3:c.709G>T	NP_620073.2:p.Glu237Ter