Canonical Allele Identifier: CA353883

Gene: RIT1

Linked Data

• ClinVar Variation Id: 183408
• ClinVar RCV Id: RCV000170492 ; RCV000207352 ; RCV000263369 ; RCV001813420 ; RCV001778757 ; RCV002453562
• dbSNP Id: rs869025194
• MyVariant Identifiers: chr1:g.155874287A>C (hg19) ; chr1:g.155904496A>C (hg38)
• PubMed: PMID:24939608

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904496A>C , CM000663.2:g.155904496A>C	GRCh38
NC_000001.10:g.155874287A>C , CM000663.1:g.155874287A>C	GRCh37
NC_000001.9:g.154140911A>C	NCBI36
NG_033885.1:g.11907T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.252T>G	ENSP00000476319.1:p.Ser84Arg
ENST00000539040.6:c.136T>G	ENSP00000441950.1:p.Phe46Val
ENST00000704061.1:c.221T>G	ENSP00000515664.1:p.Val74Gly
ENST00000368323.8:c.244T>G MANE Select	ENSP00000357306.3:p.Phe82Val
ENST00000651833.1:c.244T>G	ENSP00000498732.1:p.Phe82Val
ENST00000651853.1:c.247T>G	ENSP00000498685.1:p.Phe83Val
ENST00000368322.7:c.295T>G	ENSP00000357305.3:p.Phe99Val
ENST00000368323.7:c.244T>G	ENSP00000357306.3:p.Phe82Val
ENST00000461050.5:c.252T>G	ENSP00000476319.1:p.Ser84Arg
ENST00000539040.5:c.136T>G	ENSP00000441950.1:p.Phe46Val
ENST00000609492.1:c.244T>G	ENSP00000476612.1:p.Phe82Val
NM_001256820.1:c.136T>G	NP_001243749.1:p.Phe46Val
NM_001256821.1:c.295T>G	NP_001243750.1:p.Phe99Val
NM_006912.5:c.244T>G	NP_008843.1:p.Phe82Val
NM_001256820.2:c.136T>G	NP_001243749.1:p.Phe46Val
NM_001256821.2:c.295T>G	NP_001243750.1:p.Phe99Val
NM_006912.6:c.244T>G MANE Select	NP_008843.1:p.Phe82Val