Canonical Allele Identifier: CA395952365

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370745C>G (hg19) ; chr16:g.56336833C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336833C>G , CM000678.2:g.56336833C>G	GRCh38
NC_000016.9:g.56370745C>G , CM000678.1:g.56370745C>G	GRCh37
NC_000016.8:g.54928246C>G	NCBI36
NG_042800.1:g.150495C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.696C>G	ENSP00000262494.7:p.Asp232Glu
ENST00000262493.12:c.696C>G MANE Select	ENSP00000262493.6:p.Asp232Glu
ENST00000262494.12:c.696C>G	ENSP00000262494.7:p.Asp232Glu
ENST00000562316.6:c.363C>G	ENSP00000457238.2:p.Asp121Glu
ENST00000568375.2:c.88C>G
ENST00000638185.1:n.911C>G
ENST00000638210.1:n.996C>G
ENST00000638705.1:c.696C>G	ENSP00000491223.1:p.Asp232Glu
ENST00000638836.1:n.606C>G
ENST00000639055.1:n.1417C>G
ENST00000639251.1:n.597C>G
ENST00000639268.1:c.331C>G
ENST00000639341.1:c.221C>G
ENST00000639770.1:c.734C>G	ENSP00000491999.1:n.734C>G
ENST00000640390.1:n.626C>G
ENST00000640469.1:c.60C>G	ENSP00000491875.1:p.Asp20Glu
ENST00000640560.1:n.472C>G
ENST00000640893.1:c.*94C>G	ENSP00000492677.1:n.*94C>G
ENST00000262493.10:c.696C>G	ENSP00000262493.6:p.Asp232Glu
ENST00000262494.11:c.696C>G	ENSP00000262494.7:p.Asp232Glu
ENST00000568375.1:n.88C>G
NM_020988.2:c.696C>G	NP_066268.1:p.Asp232Glu
NM_138736.2:c.696C>G	NP_620073.2:p.Asp232Glu
XM_011523003.1:c.570C>G	XP_011521305.1:p.Asp190Glu
XM_011523003.3:c.570C>G	XP_011521305.1:p.Asp190Glu
NM_020988.3:c.696C>G MANE Select	NP_066268.1:p.Asp232Glu
NM_138736.3:c.696C>G	NP_620073.2:p.Asp232Glu