Canonical Allele Identifier: CA353880

Gene: RIT1

Linked Data

• ClinVar Variation Id: 183405
• ClinVar RCV Id: RCV000054405 ; RCV000207350 ; RCV000255048 ; RCV000508083 ; RCV001174556 ; RCV001265779 ; RCV001813418
• dbSNP Id: rs869025193
• MyVariant Identifiers: chr1:g.155874289T>C (hg19) ; chr1:g.155904498T>C (hg38)
• PubMed: PMID:23791108 ; PMID:24803665 ; PMID:26757980

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904498T>C , CM000663.2:g.155904498T>C	GRCh38
NC_000001.10:g.155874289T>C , CM000663.1:g.155874289T>C	GRCh37
NC_000001.9:g.154140913T>C	NCBI36
NG_033885.1:g.11905A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.250A>G	ENSP00000476319.1:p.Ser84Gly
ENST00000539040.6:c.134A>G	ENSP00000441950.1:p.Glu45Gly
ENST00000704061.1:c.219A>G	ENSP00000515664.1:p.Arg73=
ENST00000368323.8:c.242A>G MANE Select	ENSP00000357306.3:p.Glu81Gly
ENST00000651833.1:c.242A>G	ENSP00000498732.1:p.Glu81Gly
ENST00000651853.1:c.245A>G	ENSP00000498685.1:p.Glu82Gly
ENST00000368322.7:c.293A>G	ENSP00000357305.3:p.Glu98Gly
ENST00000368323.7:c.242A>G	ENSP00000357306.3:p.Glu81Gly
ENST00000461050.5:c.250A>G	ENSP00000476319.1:p.Ser84Gly
ENST00000539040.5:c.134A>G	ENSP00000441950.1:p.Glu45Gly
ENST00000609492.1:c.242A>G	ENSP00000476612.1:p.Glu81Gly
NM_001256820.1:c.134A>G	NP_001243749.1:p.Glu45Gly
NM_001256821.1:c.293A>G	NP_001243750.1:p.Glu98Gly
NM_006912.5:c.242A>G	NP_008843.1:p.Glu81Gly
NM_001256820.2:c.134A>G	NP_001243749.1:p.Glu45Gly
NM_001256821.2:c.293A>G	NP_001243750.1:p.Glu98Gly
NM_006912.6:c.242A>G MANE Select	NP_008843.1:p.Glu81Gly