Canonical Allele Identifier: CA342802421

Gene: RIT1

Linked Data

• ClinVar Variation Id: 1919251
• ClinVar RCV Id: RCV002594730
• dbSNP Id: rs1354654957
• gnomAD v3: 1-155904400-A-G
• gnomAD v4: 1-155904400-A-G
• MyVariant Identifiers: chr1:g.155874191A>G (hg19) ; chr1:g.155904400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904400A>G , CM000663.2:g.155904400A>G	GRCh38
NC_000001.10:g.155874191A>G , CM000663.1:g.155874191A>G	GRCh37
NC_000001.9:g.154140815A>G	NCBI36
NG_033885.1:g.12003T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*69T>C	ENSP00000476319.1:n.*69T>C
ENST00000539040.6:c.232T>C	ENSP00000441950.1:p.Phe78Leu
ENST00000704061.1:c.*11T>C	ENSP00000515664.1:n.*11T>C
ENST00000368323.8:c.340T>C MANE Select	ENSP00000357306.3:p.Phe114Leu
ENST00000651833.1:c.340T>C	ENSP00000498732.1:p.Phe114Leu
ENST00000651853.1:c.343T>C	ENSP00000498685.1:p.Phe115Leu
ENST00000368322.7:c.391T>C	ENSP00000357305.3:p.Phe131Leu
ENST00000368323.7:c.340T>C	ENSP00000357306.3:p.Phe114Leu
ENST00000461050.5:c.*69T>C	ENSP00000476319.1:n.*69T>C
ENST00000539040.5:c.232T>C	ENSP00000441950.1:p.Phe78Leu
ENST00000609492.1:c.340T>C	ENSP00000476612.1:p.Phe114Leu
NM_001256820.1:c.232T>C	NP_001243749.1:p.Phe78Leu
NM_001256821.1:c.391T>C	NP_001243750.1:p.Phe131Leu
NM_006912.5:c.340T>C	NP_008843.1:p.Phe114Leu
NM_001256820.2:c.232T>C	NP_001243749.1:p.Phe78Leu
NM_001256821.2:c.391T>C	NP_001243750.1:p.Phe131Leu
NM_006912.6:c.340T>C MANE Select	NP_008843.1:p.Phe114Leu