Canonical Allele Identifier: CA342802491

Gene: RIT1

Linked Data

• MyVariant Identifiers: chr1:g.155874203C>G (hg19) ; chr1:g.155904412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904412C>G , CM000663.2:g.155904412C>G	GRCh38
NC_000001.10:g.155874203C>G , CM000663.1:g.155874203C>G	GRCh37
NC_000001.9:g.154140827C>G	NCBI36
NG_033885.1:g.11991G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*57G>C	ENSP00000476319.1:n.*57G>C
ENST00000539040.6:c.220G>C	ENSP00000441950.1:p.Glu74Gln
ENST00000704061.1:c.305G>C	ENSP00000515664.1:p.Ter102Ser
ENST00000368323.8:c.328G>C MANE Select	ENSP00000357306.3:p.Glu110Gln
ENST00000651833.1:c.328G>C	ENSP00000498732.1:p.Glu110Gln
ENST00000651853.1:c.331G>C	ENSP00000498685.1:p.Glu111Gln
ENST00000368322.7:c.379G>C	ENSP00000357305.3:p.Glu127Gln
ENST00000368323.7:c.328G>C	ENSP00000357306.3:p.Glu110Gln
ENST00000461050.5:c.*57G>C	ENSP00000476319.1:n.*57G>C
ENST00000539040.5:c.220G>C	ENSP00000441950.1:p.Glu74Gln
ENST00000609492.1:c.328G>C	ENSP00000476612.1:p.Glu110Gln
NM_001256820.1:c.220G>C	NP_001243749.1:p.Glu74Gln
NM_001256821.1:c.379G>C	NP_001243750.1:p.Glu127Gln
NM_006912.5:c.328G>C	NP_008843.1:p.Glu110Gln
NM_001256820.2:c.220G>C	NP_001243749.1:p.Glu74Gln
NM_001256821.2:c.379G>C	NP_001243750.1:p.Glu127Gln
NM_006912.6:c.328G>C MANE Select	NP_008843.1:p.Glu110Gln