Canonical Allele Identifier: CA395952139

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1459091
• ClinVar RCV Id: RCV001949659
• dbSNP Id: rs2143664797
• MyVariant Identifiers: chr16:g.56370645T>C (hg19) ; chr16:g.56336733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336733T>C , CM000678.2:g.56336733T>C	GRCh38
NC_000016.9:g.56370645T>C , CM000678.1:g.56370645T>C	GRCh37
NC_000016.8:g.54928146T>C	NCBI36
NG_042800.1:g.150395T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.596T>C	ENSP00000262494.7:p.Leu199Pro
ENST00000262493.12:c.596T>C MANE Select	ENSP00000262493.6:p.Leu199Pro
ENST00000262494.12:c.596T>C	ENSP00000262494.7:p.Leu199Pro
ENST00000562316.6:c.263T>C	ENSP00000457238.2:p.Leu88Pro
ENST00000638185.1:n.811T>C
ENST00000638210.1:n.896T>C
ENST00000638705.1:c.596T>C	ENSP00000491223.1:p.Leu199Pro
ENST00000638836.1:n.506T>C
ENST00000639055.1:n.1317T>C
ENST00000639251.1:n.497T>C
ENST00000639268.1:c.231T>C
ENST00000639341.1:c.121T>C
ENST00000639770.1:c.634T>C	ENSP00000491999.1:n.634T>C
ENST00000640390.1:n.526T>C
ENST00000640560.1:n.372T>C
ENST00000640893.1:c.435T>C	ENSP00000492677.1:p.Ala145=
ENST00000262493.10:c.596T>C	ENSP00000262493.6:p.Leu199Pro
ENST00000262494.11:c.596T>C	ENSP00000262494.7:p.Leu199Pro
NM_020988.2:c.596T>C	NP_066268.1:p.Leu199Pro
NM_138736.2:c.596T>C	NP_620073.2:p.Leu199Pro
XM_011523003.1:c.470T>C	XP_011521305.1:p.Leu157Pro
XM_011523003.3:c.470T>C	XP_011521305.1:p.Leu157Pro
NM_020988.3:c.596T>C MANE Select	NP_066268.1:p.Leu199Pro
NM_138736.3:c.596T>C	NP_620073.2:p.Leu199Pro