Canonical Allele Identifier: CA16042308

Gene: RIT1

Linked Data

• ClinVar Variation Id: 372863
• ClinVar RCV Id: RCV000413610 ; RCV001782888 ; RCV003418096
• dbSNP Id: rs868208063
• COSMIC: COSM1724988
• MyVariant Identifiers: chr1:g.155874286A>C (hg19) ; chr1:g.155904495A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904495A>C , CM000663.2:g.155904495A>C	GRCh38
NC_000001.10:g.155874286A>C , CM000663.1:g.155874286A>C	GRCh37
NC_000001.9:g.154140910A>C	NCBI36
NG_033885.1:g.11908T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.253T>G	ENSP00000476319.1:p.Leu85Val
ENST00000539040.6:c.137T>G	ENSP00000441950.1:p.Phe46Cys
ENST00000704061.1:c.222T>G	ENSP00000515664.1:p.Val74=
ENST00000368323.8:c.245T>G MANE Select	ENSP00000357306.3:p.Phe82Cys
ENST00000651833.1:c.245T>G	ENSP00000498732.1:p.Phe82Cys
ENST00000651853.1:c.248T>G	ENSP00000498685.1:p.Phe83Cys
ENST00000368322.7:c.296T>G	ENSP00000357305.3:p.Phe99Cys
ENST00000368323.7:c.245T>G	ENSP00000357306.3:p.Phe82Cys
ENST00000461050.5:c.253T>G	ENSP00000476319.1:p.Leu85Val
ENST00000539040.5:c.137T>G	ENSP00000441950.1:p.Phe46Cys
ENST00000609492.1:c.245T>G	ENSP00000476612.1:p.Phe82Cys
NM_001256820.1:c.137T>G	NP_001243749.1:p.Phe46Cys
NM_001256821.1:c.296T>G	NP_001243750.1:p.Phe99Cys
NM_006912.5:c.245T>G	NP_008843.1:p.Phe82Cys
NM_001256820.2:c.137T>G	NP_001243749.1:p.Phe46Cys
NM_001256821.2:c.296T>G	NP_001243750.1:p.Phe99Cys
NM_006912.6:c.245T>G MANE Select	NP_008843.1:p.Phe82Cys