Canonical Allele Identifier: CA395952336

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 427060
• ClinVar RCV Id: RCV000489921
• dbSNP Id: rs1085307932
• MyVariant Identifiers: chr16:g.56370732T>C (hg19) ; chr16:g.56336820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336820T>C , CM000678.2:g.56336820T>C	GRCh38
NC_000016.9:g.56370732T>C , CM000678.1:g.56370732T>C	GRCh37
NC_000016.8:g.54928233T>C	NCBI36
NG_042800.1:g.150482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.683T>C	ENSP00000262494.7:p.Leu228Pro
ENST00000262493.12:c.683T>C MANE Select	ENSP00000262493.6:p.Leu228Pro
ENST00000262494.12:c.683T>C	ENSP00000262494.7:p.Leu228Pro
ENST00000562316.6:c.350T>C	ENSP00000457238.2:p.Leu117Pro
ENST00000568375.2:c.75T>C
ENST00000638185.1:n.898T>C
ENST00000638210.1:n.983T>C
ENST00000638705.1:c.683T>C	ENSP00000491223.1:p.Leu228Pro
ENST00000638836.1:n.593T>C
ENST00000639055.1:n.1404T>C
ENST00000639251.1:n.584T>C
ENST00000639268.1:c.318T>C
ENST00000639341.1:c.208T>C
ENST00000639770.1:c.721T>C	ENSP00000491999.1:n.721T>C
ENST00000640390.1:n.613T>C
ENST00000640469.1:c.47T>C	ENSP00000491875.1:p.Leu16Pro
ENST00000640560.1:n.459T>C
ENST00000640893.1:c.*81T>C	ENSP00000492677.1:n.*81T>C
ENST00000262493.10:c.683T>C	ENSP00000262493.6:p.Leu228Pro
ENST00000262494.11:c.683T>C	ENSP00000262494.7:p.Leu228Pro
ENST00000568375.1:n.75T>C
NM_020988.2:c.683T>C	NP_066268.1:p.Leu228Pro
NM_138736.2:c.683T>C	NP_620073.2:p.Leu228Pro
XM_011523003.1:c.557T>C	XP_011521305.1:p.Leu186Pro
XM_011523003.3:c.557T>C	XP_011521305.1:p.Leu186Pro
NM_020988.3:c.683T>C MANE Select	NP_066268.1:p.Leu228Pro
NM_138736.3:c.683T>C	NP_620073.2:p.Leu228Pro