Canonical Allele Identifier: CA342801020

Gene: RIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155900470A>G , CM000663.2:g.155900470A>G	GRCh38
NC_000001.10:g.155870261A>G , CM000663.1:g.155870261A>G	GRCh37
NC_000001.9:g.154136885A>G	NCBI36
NG_033885.1:g.15933T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006912.6:c.578T>C MANE Select	NP_008843.1:p.Met193Thr
ENST00000368323.8:c.578T>C MANE Select	ENSP00000357306.3:p.Met193Thr
NM_001256820.1:c.470T>C	NP_001243749.1:p.Met157Thr
NM_001256820.2:c.470T>C	NP_001243749.1:p.Met157Thr
NM_001256821.1:c.629T>C	NP_001243750.1:p.Met210Thr
NM_001256821.2:c.629T>C	NP_001243750.1:p.Met210Thr
NM_006912.5:c.578T>C	NP_008843.1:p.Met193Thr
ENST00000368322.7:c.629T>C	ENSP00000357305.3:p.Met210Thr
ENST00000368323.7:c.578T>C	ENSP00000357306.3:p.Met193Thr
ENST00000461050.5:c.*307T>C	ENSP00000476319.1:n.*307T>C
ENST00000461050.6:c.*307T>C	ENSP00000476319.1:n.*307T>C
ENST00000539040.5:c.470T>C	ENSP00000441950.1:p.Met157Thr
ENST00000539040.6:c.470T>C	ENSP00000441950.1:p.Met157Thr
ENST00000651853.1:c.581T>C	ENSP00000498685.1:p.Met194Thr
ENST00000704061.1:c.*249T>C	ENSP00000515664.1:n.*249T>C