Canonical Allele Identifier: CA342776314
Community Standard Title: NM_006912.6(RIT1):c.67A>G (p.Lys23Glu)
Gene: RIT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155910695T>C , CM000663.2:g.155910695T>C GRCh38
NC_000001.10:g.155880486T>C , CM000663.1:g.155880486T>C GRCh37
NC_000001.9:g.154147110T>C NCBI36
NG_033885.1:g.5708A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006912.6:c.67A>G MANE Select NP_008843.1:p.Lys23Glu
ENST00000368323.8:c.67A>G MANE Select ENSP00000357306.3:p.Lys23Glu
NM_001256820.1:c.-2-189A>G NP_001243749.1:n.-2-189A>G
NM_001256820.2:c.-2-189A>G NP_001243749.1:n.-2-189A>G
NM_001256821.1:c.118A>G NP_001243750.1:p.Lys40Glu
NM_001256821.2:c.118A>G NP_001243750.1:p.Lys40Glu
NM_006912.5:c.67A>G NP_008843.1:p.Lys23Glu
ENST00000368322.7:c.118A>G ENSP00000357305.3:p.Lys40Glu
ENST00000368323.7:c.67A>G ENSP00000357306.3:p.Lys23Glu
ENST00000461050.5:c.67A>G ENSP00000476319.1:p.Lys23Glu
ENST00000461050.6:c.67A>G ENSP00000476319.1:p.Lys23Glu
ENST00000462687.1:n.97A>G
ENST00000539040.5:c.-2-189A>G ENSP00000441950.1:n.-2-189A>G
ENST00000539040.6:c.-2-189A>G ENSP00000441950.1:n.-2-189A>G
ENST00000609492.1:c.67A>G ENSP00000476612.1:p.Lys23Glu
ENST00000650659.1:n.249A>G
ENST00000651833.1:c.67A>G ENSP00000498732.1:p.Lys23Glu
ENST00000651853.1:c.67A>G ENSP00000498685.1:p.Lys23Glu
ENST00000704061.1:c.118A>G ENSP00000515664.1:p.Lys40Glu