Canonical Allele Identifier: CA353878

Gene: RIT1

Linked Data

• ClinVar Variation Id: 183404
• ClinVar RCV Id: RCV000207347
• dbSNP Id: rs869025192
• gnomAD v4: 1-155904499-C-G
• COSMIC: COSM2211297
• MyVariant Identifiers: chr1:g.155874290C>G (hg19) ; chr1:g.155904499C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904499C>G , CM000663.2:g.155904499C>G	GRCh38
NC_000001.10:g.155874290C>G , CM000663.1:g.155874290C>G	GRCh37
NC_000001.9:g.154140914C>G	NCBI36
NG_033885.1:g.11904G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.249G>C	ENSP00000476319.1:p.Gln83His
ENST00000539040.6:c.133G>C	ENSP00000441950.1:p.Glu45Gln
ENST00000704061.1:c.218G>C	ENSP00000515664.1:p.Arg73Thr
ENST00000368323.8:c.241G>C MANE Select	ENSP00000357306.3:p.Glu81Gln
ENST00000651833.1:c.241G>C	ENSP00000498732.1:p.Glu81Gln
ENST00000651853.1:c.244G>C	ENSP00000498685.1:p.Glu82Gln
ENST00000368322.7:c.292G>C	ENSP00000357305.3:p.Glu98Gln
ENST00000368323.7:c.241G>C	ENSP00000357306.3:p.Glu81Gln
ENST00000461050.5:c.249G>C	ENSP00000476319.1:p.Gln83His
ENST00000539040.5:c.133G>C	ENSP00000441950.1:p.Glu45Gln
ENST00000609492.1:c.241G>C	ENSP00000476612.1:p.Glu81Gln
NM_001256820.1:c.133G>C	NP_001243749.1:p.Glu45Gln
NM_001256821.1:c.292G>C	NP_001243750.1:p.Glu98Gln
NM_006912.5:c.241G>C	NP_008843.1:p.Glu81Gln
NM_001256820.2:c.133G>C	NP_001243749.1:p.Glu45Gln
NM_001256821.2:c.292G>C	NP_001243750.1:p.Glu98Gln
NM_006912.6:c.241G>C MANE Select	NP_008843.1:p.Glu81Gln