Canonical Allele Identifier: CA16040628
Gene: RIT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370035
dbSNP Id: rs730881014

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155904494A>T , CM000663.2:g.155904494A>T GRCh38
NC_000001.10:g.155874285A>T , CM000663.1:g.155874285A>T GRCh37
NC_000001.9:g.154140909A>T NCBI36
NG_033885.1:g.11909T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461050.6:c.254T>A ENSP00000476319.1:p.Leu85Ter
ENST00000539040.6:c.138T>A ENSP00000441950.1:p.Phe46Leu
ENST00000704061.1:c.223T>A ENSP00000515664.1:p.Tyr75Asn
ENST00000368323.8:c.246T>A MANE Select ENSP00000357306.3:p.Phe82Leu
ENST00000651833.1:c.246T>A ENSP00000498732.1:p.Phe82Leu
ENST00000651853.1:c.249T>A ENSP00000498685.1:p.Phe83Leu
ENST00000368322.7:c.297T>A ENSP00000357305.3:p.Phe99Leu
ENST00000368323.7:c.246T>A ENSP00000357306.3:p.Phe82Leu
ENST00000461050.5:c.254T>A ENSP00000476319.1:p.Leu85Ter
ENST00000539040.5:c.138T>A ENSP00000441950.1:p.Phe46Leu
ENST00000609492.1:c.246T>A ENSP00000476612.1:p.Phe82Leu
NM_001256820.1:c.138T>A NP_001243749.1:p.Phe46Leu
NM_001256821.1:c.297T>A NP_001243750.1:p.Phe99Leu
NM_006912.5:c.246T>A NP_008843.1:p.Phe82Leu
NM_001256820.2:c.138T>A NP_001243749.1:p.Phe46Leu
NM_001256821.2:c.297T>A NP_001243750.1:p.Phe99Leu
NM_006912.6:c.246T>A MANE Select NP_008843.1:p.Phe82Leu