Canonical Allele Identifier: CA10602741

Gene: RIT1

Linked Data

• ClinVar Variation Id: 280151
• ClinVar RCV Id: RCV000278934 ; RCV001813441 ; RCV001855060
• dbSNP Id: rs886041414
• MyVariant Identifiers: chr1:g.155874272C>G (hg19) ; chr1:g.155904481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904481C>G , CM000663.2:g.155904481C>G	GRCh38
NC_000001.10:g.155874272C>G , CM000663.1:g.155874272C>G	GRCh37
NC_000001.9:g.154140896C>G	NCBI36
NG_033885.1:g.11922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.267G>C	ENSP00000476319.1:p.Gly89=
ENST00000539040.6:c.151G>C	ENSP00000441950.1:p.Asp51His
ENST00000704061.1:c.236G>C	ENSP00000515664.1:p.Gly79Ala
ENST00000368323.8:c.259G>C MANE Select	ENSP00000357306.3:p.Asp87His
ENST00000651833.1:c.259G>C	ENSP00000498732.1:p.Asp87His
ENST00000651853.1:c.262G>C	ENSP00000498685.1:p.Asp88His
ENST00000368322.7:c.310G>C	ENSP00000357305.3:p.Asp104His
ENST00000368323.7:c.259G>C	ENSP00000357306.3:p.Asp87His
ENST00000461050.5:c.267G>C	ENSP00000476319.1:p.Gly89=
ENST00000539040.5:c.151G>C	ENSP00000441950.1:p.Asp51His
ENST00000609492.1:c.259G>C	ENSP00000476612.1:p.Asp87His
NM_001256820.1:c.151G>C	NP_001243749.1:p.Asp51His
NM_001256821.1:c.310G>C	NP_001243750.1:p.Asp104His
NM_006912.5:c.259G>C	NP_008843.1:p.Asp87His
NM_001256820.2:c.151G>C	NP_001243749.1:p.Asp51His
NM_001256821.2:c.310G>C	NP_001243750.1:p.Asp104His
NM_006912.6:c.259G>C MANE Select	NP_008843.1:p.Asp87His