Canonical Allele Identifier: CA342776452
Community Standard Title: NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr)
Gene: RIT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155910727C>T , CM000663.2:g.155910727C>T GRCh38
NC_000001.10:g.155880518C>T , CM000663.1:g.155880518C>T GRCh37
NC_000001.9:g.154147142C>T NCBI36
NG_033885.1:g.5676G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006912.6:c.35G>A MANE Select NP_008843.1:p.Cys12Tyr
ENST00000368323.8:c.35G>A MANE Select ENSP00000357306.3:p.Cys12Tyr
NM_001256820.1:c.-2-221G>A NP_001243749.1:n.-2-221G>A
NM_001256820.2:c.-2-221G>A NP_001243749.1:n.-2-221G>A
NM_001256821.1:c.86G>A NP_001243750.1:p.Cys29Tyr
NM_001256821.2:c.86G>A NP_001243750.1:p.Cys29Tyr
NM_006912.5:c.35G>A NP_008843.1:p.Cys12Tyr
ENST00000368322.7:c.86G>A ENSP00000357305.3:p.Cys29Tyr
ENST00000368323.7:c.35G>A ENSP00000357306.3:p.Cys12Tyr
ENST00000461050.5:c.35G>A ENSP00000476319.1:p.Cys12Tyr
ENST00000461050.6:c.35G>A ENSP00000476319.1:p.Cys12Tyr
ENST00000462687.1:n.65G>A
ENST00000539040.5:c.-2-221G>A ENSP00000441950.1:n.-2-221G>A
ENST00000539040.6:c.-2-221G>A ENSP00000441950.1:n.-2-221G>A
ENST00000609492.1:c.35G>A ENSP00000476612.1:p.Cys12Tyr
ENST00000650659.1:n.217G>A
ENST00000651833.1:c.35G>A ENSP00000498732.1:p.Cys12Tyr
ENST00000651853.1:c.35G>A ENSP00000498685.1:p.Cys12Tyr
ENST00000704061.1:c.86G>A ENSP00000515664.1:p.Cys29Tyr