Canonical Allele Identifier: CA342802940
Gene: RIT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155904493T>A , CM000663.2:g.155904493T>A GRCh38
NC_000001.10:g.155874284T>A , CM000663.1:g.155874284T>A GRCh37
NC_000001.9:g.154140908T>A NCBI36
NG_033885.1:g.11910A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461050.6:c.255A>T ENSP00000476319.1:p.Leu85Phe
ENST00000539040.6:c.139A>T ENSP00000441950.1:p.Thr47Ser
ENST00000704061.1:c.224A>T ENSP00000515664.1:p.Tyr75Phe
ENST00000368323.8:c.247A>T MANE Select ENSP00000357306.3:p.Thr83Ser
ENST00000651833.1:c.247A>T ENSP00000498732.1:p.Thr83Ser
ENST00000651853.1:c.250A>T ENSP00000498685.1:p.Thr84Ser
ENST00000368322.7:c.298A>T ENSP00000357305.3:p.Thr100Ser
ENST00000368323.7:c.247A>T ENSP00000357306.3:p.Thr83Ser
ENST00000461050.5:c.255A>T ENSP00000476319.1:p.Leu85Phe
ENST00000539040.5:c.139A>T ENSP00000441950.1:p.Thr47Ser
ENST00000609492.1:c.247A>T ENSP00000476612.1:p.Thr83Ser
NM_001256820.1:c.139A>T NP_001243749.1:p.Thr47Ser
NM_001256821.1:c.298A>T NP_001243750.1:p.Thr100Ser
NM_006912.5:c.247A>T NP_008843.1:p.Thr83Ser
NM_001256820.2:c.139A>T NP_001243749.1:p.Thr47Ser
NM_001256821.2:c.298A>T NP_001243750.1:p.Thr100Ser
NM_006912.6:c.247A>T MANE Select NP_008843.1:p.Thr83Ser