Canonical Allele Identifier: CA1151783

Gene: RIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155900587C>T , CM000663.2:g.155900587C>T	GRCh38
NC_000001.10:g.155870378C>T , CM000663.1:g.155870378C>T	GRCh37
NC_000001.9:g.154137002C>T	NCBI36
NG_033885.1:g.15816G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006912.6:c.461G>A MANE Select	NP_008843.1:p.Arg154Gln
ENST00000368323.8:c.461G>A MANE Select	ENSP00000357306.3:p.Arg154Gln
NM_001256820.1:c.353G>A	NP_001243749.1:p.Arg118Gln
NM_001256820.2:c.353G>A	NP_001243749.1:p.Arg118Gln
NM_001256821.1:c.512G>A	NP_001243750.1:p.Arg171Gln
NM_001256821.2:c.512G>A	NP_001243750.1:p.Arg171Gln
NM_006912.5:c.461G>A	NP_008843.1:p.Arg154Gln
ENST00000368322.7:c.512G>A	ENSP00000357305.3:p.Arg171Gln
ENST00000368323.7:c.461G>A	ENSP00000357306.3:p.Arg154Gln
ENST00000461050.5:c.*190G>A	ENSP00000476319.1:n.*190G>A
ENST00000461050.6:c.*190G>A	ENSP00000476319.1:n.*190G>A
ENST00000539040.5:c.353G>A	ENSP00000441950.1:p.Arg118Gln
ENST00000539040.6:c.353G>A	ENSP00000441950.1:p.Arg118Gln
ENST00000651853.1:c.464G>A	ENSP00000498685.1:p.Arg155Gln
ENST00000704061.1:c.*132G>A	ENSP00000515664.1:n.*132G>A