Canonical Allele Identifier: CA342802970

Gene: RIT1

Linked Data

• MyVariant Identifiers: chr1:g.155874289T>G (hg19) ; chr1:g.155904498T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.250A>C	ENSP00000476319.1:p.Ser84Arg
ENST00000539040.6:c.134A>C	ENSP00000441950.1:p.Glu45Ala
ENST00000704061.1:c.219A>C	ENSP00000515664.1:p.Arg73Ser
ENST00000368323.8:c.242A>C MANE Select	ENSP00000357306.3:p.Glu81Ala
ENST00000651833.1:c.242A>C	ENSP00000498732.1:p.Glu81Ala
ENST00000651853.1:c.245A>C	ENSP00000498685.1:p.Glu82Ala
ENST00000368322.7:c.293A>C	ENSP00000357305.3:p.Glu98Ala
ENST00000368323.7:c.242A>C	ENSP00000357306.3:p.Glu81Ala
ENST00000461050.5:c.250A>C	ENSP00000476319.1:p.Ser84Arg
ENST00000539040.5:c.134A>C	ENSP00000441950.1:p.Glu45Ala
ENST00000609492.1:c.242A>C	ENSP00000476612.1:p.Glu81Ala
NM_001256820.1:c.134A>C	NP_001243749.1:p.Glu45Ala
NM_001256821.1:c.293A>C	NP_001243750.1:p.Glu98Ala
NM_006912.5:c.242A>C	NP_008843.1:p.Glu81Ala
NM_001256820.2:c.134A>C	NP_001243749.1:p.Glu45Ala
NM_001256821.2:c.293A>C	NP_001243750.1:p.Glu98Ala
NM_006912.6:c.242A>C MANE Select	NP_008843.1:p.Glu81Ala