Canonical Allele Identifier: CA150798

Gene: RIT1

Linked Data

• ClinVar Variation Id: 120250
• ClinVar RCV Id: RCV000106331 ; RCV000220792 ; RCV000301748 ; RCV001813378 ; RCV001844039
• dbSNP Id: rs483352822
• COSMIC: COSM357927
• MyVariant Identifiers: chr1:g.155874261C>T (hg19) ; chr1:g.155904470C>T (hg38)
• PubMed: PMID:23791108 ; PMID:24469055 ; PMID:24803665 ; PMID:24939608 ; PMID:25959749 ; PMID:26714497 ; PMID:26757980

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904470C>T , CM000663.2:g.155904470C>T	GRCh38
NC_000001.10:g.155874261C>T , CM000663.1:g.155874261C>T	GRCh37
NC_000001.9:g.154140885C>T	NCBI36
NG_033885.1:g.11933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.278G>A	ENSP00000476319.1:p.Ter93=
ENST00000539040.6:c.162G>A	ENSP00000441950.1:p.Met54Ile
ENST00000704061.1:c.247G>A	ENSP00000515664.1:p.Glu83Lys
ENST00000368323.8:c.270G>A MANE Select	ENSP00000357306.3:p.Met90Ile
ENST00000651833.1:c.270G>A	ENSP00000498732.1:p.Met90Ile
ENST00000651853.1:c.273G>A	ENSP00000498685.1:p.Met91Ile
ENST00000368322.7:c.321G>A	ENSP00000357305.3:p.Met107Ile
ENST00000368323.7:c.270G>A	ENSP00000357306.3:p.Met90Ile
ENST00000461050.5:c.278G>A	ENSP00000476319.1:p.Ter93=
ENST00000539040.5:c.162G>A	ENSP00000441950.1:p.Met54Ile
ENST00000609492.1:c.270G>A	ENSP00000476612.1:p.Met90Ile
NM_001256820.1:c.162G>A	NP_001243749.1:p.Met54Ile
NM_001256821.1:c.321G>A	NP_001243750.1:p.Met107Ile
NM_006912.5:c.270G>A	NP_008843.1:p.Met90Ile
NM_001256820.2:c.162G>A	NP_001243749.1:p.Met54Ile
NM_001256821.2:c.321G>A	NP_001243750.1:p.Met107Ile
NM_006912.6:c.270G>A MANE Select	NP_008843.1:p.Met90Ile