Canonical Allele Identifier: CA342802812
Community Standard Title: NM_006912.6(RIT1):c.268A>G (p.Met90Val)
Gene: RIT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155904472T>C , CM000663.2:g.155904472T>C GRCh38
NC_000001.10:g.155874263T>C , CM000663.1:g.155874263T>C GRCh37
NC_000001.9:g.154140887T>C NCBI36
NG_033885.1:g.11931A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006912.6:c.268A>G MANE Select NP_008843.1:p.Met90Val
ENST00000368323.8:c.268A>G MANE Select ENSP00000357306.3:p.Met90Val
NM_001256820.1:c.160A>G NP_001243749.1:p.Met54Val
NM_001256820.2:c.160A>G NP_001243749.1:p.Met54Val
NM_001256821.1:c.319A>G NP_001243750.1:p.Met107Val
NM_001256821.2:c.319A>G NP_001243750.1:p.Met107Val
NM_006912.5:c.268A>G NP_008843.1:p.Met90Val
ENST00000368322.7:c.319A>G ENSP00000357305.3:p.Met107Val
ENST00000368323.7:c.268A>G ENSP00000357306.3:p.Met90Val
ENST00000461050.5:c.276A>G ENSP00000476319.1:p.Ile92Met
ENST00000461050.6:c.276A>G ENSP00000476319.1:p.Ile92Met
ENST00000539040.5:c.160A>G ENSP00000441950.1:p.Met54Val
ENST00000539040.6:c.160A>G ENSP00000441950.1:p.Met54Val
ENST00000609492.1:c.268A>G ENSP00000476612.1:p.Met90Val
ENST00000651833.1:c.268A>G ENSP00000498732.1:p.Met90Val
ENST00000651853.1:c.271A>G ENSP00000498685.1:p.Met91Val
ENST00000704061.1:c.245A>G ENSP00000515664.1:p.Tyr82Cys