Canonical Allele Identifier: CA342776100
Community Standard Title: NM_006912.6(RIT1):c.112A>G (p.Thr38Ala)
Gene: RIT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155910501T>C , CM000663.2:g.155910501T>C GRCh38
NC_000001.10:g.155880292T>C , CM000663.1:g.155880292T>C GRCh37
NC_000001.9:g.154146916T>C NCBI36
NG_033885.1:g.5902A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006912.6:c.112A>G MANE Select NP_008843.1:p.Thr38Ala
ENST00000368323.8:c.112A>G MANE Select ENSP00000357306.3:p.Thr38Ala
NM_001256820.1:c.4A>G NP_001243749.1:p.Thr2Ala
NM_001256820.2:c.4A>G NP_001243749.1:p.Thr2Ala
NM_001256821.1:c.163A>G NP_001243750.1:p.Thr55Ala
NM_001256821.2:c.163A>G NP_001243750.1:p.Thr55Ala
NM_006912.5:c.112A>G NP_008843.1:p.Thr38Ala
ENST00000368322.7:c.163A>G ENSP00000357305.3:p.Thr55Ala
ENST00000368323.7:c.112A>G ENSP00000357306.3:p.Thr38Ala
ENST00000461050.5:c.112A>G ENSP00000476319.1:p.Thr38Ala
ENST00000461050.6:c.112A>G ENSP00000476319.1:p.Thr38Ala
ENST00000462687.1:n.142A>G
ENST00000539040.5:c.4A>G ENSP00000441950.1:p.Thr2Ala
ENST00000539040.6:c.4A>G ENSP00000441950.1:p.Thr2Ala
ENST00000609492.1:c.112A>G ENSP00000476612.1:p.Thr38Ala
ENST00000650659.1:n.294A>G
ENST00000651833.1:c.112A>G ENSP00000498732.1:p.Thr38Ala
ENST00000651853.1:c.112A>G ENSP00000498685.1:p.Thr38Ala
ENST00000704061.1:c.163A>G ENSP00000515664.1:p.Thr55Ala