Canonical Allele Identifier: CA342802136

Gene: RIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904339T>G , CM000663.2:g.155904339T>G	GRCh38
NC_000001.10:g.155874130T>G , CM000663.1:g.155874130T>G	GRCh37
NC_000001.9:g.154140754T>G	NCBI36
NG_033885.1:g.12064A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006912.6:c.401A>C MANE Select	NP_008843.1:p.Asn134Thr
ENST00000368323.8:c.401A>C MANE Select	ENSP00000357306.3:p.Asn134Thr
NM_001256820.1:c.293A>C	NP_001243749.1:p.Asn98Thr
NM_001256820.2:c.293A>C	NP_001243749.1:p.Asn98Thr
NM_001256821.1:c.452A>C	NP_001243750.1:p.Asn151Thr
NM_001256821.2:c.452A>C	NP_001243750.1:p.Asn151Thr
NM_006912.5:c.401A>C	NP_008843.1:p.Asn134Thr
ENST00000368322.7:c.452A>C	ENSP00000357305.3:p.Asn151Thr
ENST00000368323.7:c.401A>C	ENSP00000357306.3:p.Asn134Thr
ENST00000461050.5:c.*130A>C	ENSP00000476319.1:n.*130A>C
ENST00000461050.6:c.*130A>C	ENSP00000476319.1:n.*130A>C
ENST00000539040.5:c.293A>C	ENSP00000441950.1:p.Asn98Thr
ENST00000539040.6:c.293A>C	ENSP00000441950.1:p.Asn98Thr
ENST00000609492.1:c.401A>C	ENSP00000476612.1:p.Asn134Thr
ENST00000651853.1:c.404A>C	ENSP00000498685.1:p.Asn135Thr
ENST00000704061.1:c.*72A>C	ENSP00000515664.1:n.*72A>C