Canonical Allele Identifier: CA342802506

Gene: RIT1

Linked Data

• ClinVar Variation Id: 1462672
• ClinVar RCV Id: RCV001985744 ; RCV002324413
• dbSNP Id: rs1407666045
• gnomAD v3: 1-155904414-T-C
• gnomAD v4: 1-155904414-T-C
• MyVariant Identifiers: chr1:g.155874205T>C (hg19) ; chr1:g.155904414T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904414T>C , CM000663.2:g.155904414T>C	GRCh38
NC_000001.10:g.155874205T>C , CM000663.1:g.155874205T>C	GRCh37
NC_000001.9:g.154140829T>C	NCBI36
NG_033885.1:g.11989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.*55A>G	ENSP00000476319.1:n.*55A>G
ENST00000539040.6:c.218A>G	ENSP00000441950.1:p.His73Arg
ENST00000704061.1:c.303A>G	ENSP00000515664.1:p.Pro101=
ENST00000368323.8:c.326A>G MANE Select	ENSP00000357306.3:p.His109Arg
ENST00000651833.1:c.326A>G	ENSP00000498732.1:p.His109Arg
ENST00000651853.1:c.329A>G	ENSP00000498685.1:p.His110Arg
ENST00000368322.7:c.377A>G	ENSP00000357305.3:p.His126Arg
ENST00000368323.7:c.326A>G	ENSP00000357306.3:p.His109Arg
ENST00000461050.5:c.*55A>G	ENSP00000476319.1:n.*55A>G
ENST00000539040.5:c.218A>G	ENSP00000441950.1:p.His73Arg
ENST00000609492.1:c.326A>G	ENSP00000476612.1:p.His109Arg
NM_001256820.1:c.218A>G	NP_001243749.1:p.His73Arg
NM_001256821.1:c.377A>G	NP_001243750.1:p.His126Arg
NM_006912.5:c.326A>G	NP_008843.1:p.His109Arg
NM_001256820.2:c.218A>G	NP_001243749.1:p.His73Arg
NM_001256821.2:c.377A>G	NP_001243750.1:p.His126Arg
NM_006912.6:c.326A>G MANE Select	NP_008843.1:p.His109Arg