Canonical Allele Identifier: CA342802390
Gene: RIT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155904395T>G , CM000663.2:g.155904395T>G GRCh38
NC_000001.10:g.155874186T>G , CM000663.1:g.155874186T>G GRCh37
NC_000001.9:g.154140810T>G NCBI36
NG_033885.1:g.12008A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461050.6:c.*74A>C ENSP00000476319.1:n.*74A>C
ENST00000539040.6:c.237A>C ENSP00000441950.1:p.Lys79Asn
ENST00000704061.1:c.*16A>C ENSP00000515664.1:n.*16A>C
ENST00000368323.8:c.345A>C MANE Select ENSP00000357306.3:p.Lys115Asn
ENST00000651833.1:c.345A>C ENSP00000498732.1:p.Lys115Asn
ENST00000651853.1:c.348A>C ENSP00000498685.1:p.Lys116Asn
ENST00000368322.7:c.396A>C ENSP00000357305.3:p.Lys132Asn
ENST00000368323.7:c.345A>C ENSP00000357306.3:p.Lys115Asn
ENST00000461050.5:c.*74A>C ENSP00000476319.1:n.*74A>C
ENST00000539040.5:c.237A>C ENSP00000441950.1:p.Lys79Asn
ENST00000609492.1:c.345A>C ENSP00000476612.1:p.Lys115Asn
NM_001256820.1:c.237A>C NP_001243749.1:p.Lys79Asn
NM_001256821.1:c.396A>C NP_001243750.1:p.Lys132Asn
NM_006912.5:c.345A>C NP_008843.1:p.Lys115Asn
NM_001256820.2:c.237A>C NP_001243749.1:p.Lys79Asn
NM_001256821.2:c.396A>C NP_001243750.1:p.Lys132Asn
NM_006912.6:c.345A>C MANE Select NP_008843.1:p.Lys115Asn