Canonical Allele Identifier: CA342802950

Gene: RIT1

Linked Data

• ClinVar Variation Id: 694696
• ClinVar RCV Id: RCV000856764
• dbSNP Id: rs868208063
• gnomAD v4: 1-155904495-A-G
• MyVariant Identifiers: chr1:g.155874286A>G (hg19) ; chr1:g.155904495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904495A>G , CM000663.2:g.155904495A>G	GRCh38
NC_000001.10:g.155874286A>G , CM000663.1:g.155874286A>G	GRCh37
NC_000001.9:g.154140910A>G	NCBI36
NG_033885.1:g.11908T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.253T>C	ENSP00000476319.1:p.Leu85=
ENST00000539040.6:c.137T>C	ENSP00000441950.1:p.Phe46Ser
ENST00000704061.1:c.222T>C	ENSP00000515664.1:p.Val74=
ENST00000368323.8:c.245T>C MANE Select	ENSP00000357306.3:p.Phe82Ser
ENST00000651833.1:c.245T>C	ENSP00000498732.1:p.Phe82Ser
ENST00000651853.1:c.248T>C	ENSP00000498685.1:p.Phe83Ser
ENST00000368322.7:c.296T>C	ENSP00000357305.3:p.Phe99Ser
ENST00000368323.7:c.245T>C	ENSP00000357306.3:p.Phe82Ser
ENST00000461050.5:c.253T>C	ENSP00000476319.1:p.Leu85=
ENST00000539040.5:c.137T>C	ENSP00000441950.1:p.Phe46Ser
ENST00000609492.1:c.245T>C	ENSP00000476612.1:p.Phe82Ser
NM_001256820.1:c.137T>C	NP_001243749.1:p.Phe46Ser
NM_001256821.1:c.296T>C	NP_001243750.1:p.Phe99Ser
NM_006912.5:c.245T>C	NP_008843.1:p.Phe82Ser
NM_001256820.2:c.137T>C	NP_001243749.1:p.Phe46Ser
NM_001256821.2:c.296T>C	NP_001243750.1:p.Phe99Ser
NM_006912.6:c.245T>C MANE Select	NP_008843.1:p.Phe82Ser