Canonical Allele Identifier: CA353877
Gene: RIT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 183407
ClinVar RCV Id: RCV000207346 RCV000254958 RCV001813419 RCV001850287 RCV003317110 RCV003927532
dbSNP Id: rs869025194
MyVariant Identifiers: chr1:g.155874287A>G (hg19) chr1:g.155904496A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000461050.6:c.252T>C ENSP00000476319.1:p.Ser84=
ENST00000539040.6:c.136T>C ENSP00000441950.1:p.Phe46Leu
ENST00000704061.1:c.221T>C ENSP00000515664.1:p.Val74Ala
ENST00000368323.8:c.244T>C MANE Select ENSP00000357306.3:p.Phe82Leu
ENST00000651833.1:c.244T>C ENSP00000498732.1:p.Phe82Leu
ENST00000651853.1:c.247T>C ENSP00000498685.1:p.Phe83Leu
ENST00000368322.7:c.295T>C ENSP00000357305.3:p.Phe99Leu
ENST00000368323.7:c.244T>C ENSP00000357306.3:p.Phe82Leu
ENST00000461050.5:c.252T>C ENSP00000476319.1:p.Ser84=
ENST00000539040.5:c.136T>C ENSP00000441950.1:p.Phe46Leu
ENST00000609492.1:c.244T>C ENSP00000476612.1:p.Phe82Leu
NM_001256820.1:c.136T>C NP_001243749.1:p.Phe46Leu
NM_001256821.1:c.295T>C NP_001243750.1:p.Phe99Leu
NM_006912.5:c.244T>C NP_008843.1:p.Phe82Leu
NM_001256820.2:c.136T>C NP_001243749.1:p.Phe46Leu
NM_001256821.2:c.295T>C NP_001243750.1:p.Phe99Leu
NM_006912.6:c.244T>C MANE Select NP_008843.1:p.Phe82Leu
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