Canonical Allele Identifier: CA353876

Gene: RIT1

Linked Data

• ClinVar Variation Id: 183409
• ClinVar RCV Id: RCV000207345 ; RCV000414438 ; RCV000622399 ; RCV000856766 ; RCV001175490 ; RCV001384933
• dbSNP Id: rs869025195
• MyVariant Identifiers: chr1:g.155874284T>G (hg19) ; chr1:g.155904493T>G (hg38)
• PubMed: PMID:20876176 ; PMID:23791108 ; PMID:24939608 ; PMID:25049390 ; PMID:25124994 ; PMID:25959749 ; PMID:26714497 ; PMID:26757980 ; PMID:27101134 ; PMID:27109146

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904493T>G , CM000663.2:g.155904493T>G	GRCh38
NC_000001.10:g.155874284T>G , CM000663.1:g.155874284T>G	GRCh37
NC_000001.9:g.154140908T>G	NCBI36
NG_033885.1:g.11910A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.255A>C	ENSP00000476319.1:p.Leu85Phe
ENST00000539040.6:c.139A>C	ENSP00000441950.1:p.Thr47Pro
ENST00000704061.1:c.224A>C	ENSP00000515664.1:p.Tyr75Ser
ENST00000368323.8:c.247A>C MANE Select	ENSP00000357306.3:p.Thr83Pro
ENST00000651833.1:c.247A>C	ENSP00000498732.1:p.Thr83Pro
ENST00000651853.1:c.250A>C	ENSP00000498685.1:p.Thr84Pro
ENST00000368322.7:c.298A>C	ENSP00000357305.3:p.Thr100Pro
ENST00000368323.7:c.247A>C	ENSP00000357306.3:p.Thr83Pro
ENST00000461050.5:c.255A>C	ENSP00000476319.1:p.Leu85Phe
ENST00000539040.5:c.139A>C	ENSP00000441950.1:p.Thr47Pro
ENST00000609492.1:c.247A>C	ENSP00000476612.1:p.Thr83Pro
NM_001256820.1:c.139A>C	NP_001243749.1:p.Thr47Pro
NM_001256821.1:c.298A>C	NP_001243750.1:p.Thr100Pro
NM_006912.5:c.247A>C	NP_008843.1:p.Thr83Pro
NM_001256820.2:c.139A>C	NP_001243749.1:p.Thr47Pro
NM_001256821.2:c.298A>C	NP_001243750.1:p.Thr100Pro
NM_006912.6:c.247A>C MANE Select	NP_008843.1:p.Thr83Pro