Canonical Allele Identifier: CA342802441

Gene: RIT1

Linked Data

• MyVariant Identifiers: chr1:g.155874194C>G (hg19) ; chr1:g.155904403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904403C>G , CM000663.2:g.155904403C>G	GRCh38
NC_000001.10:g.155874194C>G , CM000663.1:g.155874194C>G	GRCh37
NC_000001.9:g.154140818C>G	NCBI36
NG_033885.1:g.12000G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*66G>C	ENSP00000476319.1:n.*66G>C
ENST00000539040.6:c.229G>C	ENSP00000441950.1:p.Glu77Gln
ENST00000704061.1:c.*8G>C	ENSP00000515664.1:n.*8G>C
ENST00000368323.8:c.337G>C MANE Select	ENSP00000357306.3:p.Glu113Gln
ENST00000651833.1:c.337G>C	ENSP00000498732.1:p.Glu113Gln
ENST00000651853.1:c.340G>C	ENSP00000498685.1:p.Glu114Gln
ENST00000368322.7:c.388G>C	ENSP00000357305.3:p.Glu130Gln
ENST00000368323.7:c.337G>C	ENSP00000357306.3:p.Glu113Gln
ENST00000461050.5:c.*66G>C	ENSP00000476319.1:n.*66G>C
ENST00000539040.5:c.229G>C	ENSP00000441950.1:p.Glu77Gln
ENST00000609492.1:c.337G>C	ENSP00000476612.1:p.Glu113Gln
NM_001256820.1:c.229G>C	NP_001243749.1:p.Glu77Gln
NM_001256821.1:c.388G>C	NP_001243750.1:p.Glu130Gln
NM_006912.5:c.337G>C	NP_008843.1:p.Glu113Gln
NM_001256820.2:c.229G>C	NP_001243749.1:p.Glu77Gln
NM_001256821.2:c.388G>C	NP_001243750.1:p.Glu130Gln
NM_006912.6:c.337G>C MANE Select	NP_008843.1:p.Glu113Gln