Canonical Allele Identifier: CA342802385
Gene: RIT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155904394G>T , CM000663.2:g.155904394G>T GRCh38
NC_000001.10:g.155874185G>T , CM000663.1:g.155874185G>T GRCh37
NC_000001.9:g.154140809G>T NCBI36
NG_033885.1:g.12009C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461050.6:c.*75C>A ENSP00000476319.1:n.*75C>A
ENST00000539040.6:c.238C>A ENSP00000441950.1:p.Gln80Lys
ENST00000704061.1:c.*17C>A ENSP00000515664.1:n.*17C>A
ENST00000368323.8:c.346C>A MANE Select ENSP00000357306.3:p.Gln116Lys
ENST00000651833.1:c.346C>A ENSP00000498732.1:p.Gln116Lys
ENST00000651853.1:c.349C>A ENSP00000498685.1:p.Gln117Lys
ENST00000368322.7:c.397C>A ENSP00000357305.3:p.Gln133Lys
ENST00000368323.7:c.346C>A ENSP00000357306.3:p.Gln116Lys
ENST00000461050.5:c.*75C>A ENSP00000476319.1:n.*75C>A
ENST00000539040.5:c.238C>A ENSP00000441950.1:p.Gln80Lys
ENST00000609492.1:c.346C>A ENSP00000476612.1:p.Gln116Lys
NM_001256820.1:c.238C>A NP_001243749.1:p.Gln80Lys
NM_001256821.1:c.397C>A NP_001243750.1:p.Gln133Lys
NM_006912.5:c.346C>A NP_008843.1:p.Gln116Lys
NM_001256820.2:c.238C>A NP_001243749.1:p.Gln80Lys
NM_001256821.2:c.397C>A NP_001243750.1:p.Gln133Lys
NM_006912.6:c.346C>A MANE Select NP_008843.1:p.Gln116Lys