Canonical Allele Identifier: CA353877

Gene: RIT1

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)

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