Canonical Allele Identifier: CA342802407

Gene: RIT1

Linked Data

• MyVariant Identifiers: chr1:g.155874189A>C (hg19) ; chr1:g.155904398A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904398A>C , CM000663.2:g.155904398A>C	GRCh38
NC_000001.10:g.155874189A>C , CM000663.1:g.155874189A>C	GRCh37
NC_000001.9:g.154140813A>C	NCBI36
NG_033885.1:g.12005T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*71T>G	ENSP00000476319.1:n.*71T>G
ENST00000539040.6:c.234T>G	ENSP00000441950.1:p.Phe78Leu
ENST00000704061.1:c.*13T>G	ENSP00000515664.1:n.*13T>G
ENST00000368323.8:c.342T>G MANE Select	ENSP00000357306.3:p.Phe114Leu
ENST00000651833.1:c.342T>G	ENSP00000498732.1:p.Phe114Leu
ENST00000651853.1:c.345T>G	ENSP00000498685.1:p.Phe115Leu
ENST00000368322.7:c.393T>G	ENSP00000357305.3:p.Phe131Leu
ENST00000368323.7:c.342T>G	ENSP00000357306.3:p.Phe114Leu
ENST00000461050.5:c.*71T>G	ENSP00000476319.1:n.*71T>G
ENST00000539040.5:c.234T>G	ENSP00000441950.1:p.Phe78Leu
ENST00000609492.1:c.342T>G	ENSP00000476612.1:p.Phe114Leu
NM_001256820.1:c.234T>G	NP_001243749.1:p.Phe78Leu
NM_001256821.1:c.393T>G	NP_001243750.1:p.Phe131Leu
NM_006912.5:c.342T>G	NP_008843.1:p.Phe114Leu
NM_001256820.2:c.234T>G	NP_001243749.1:p.Phe78Leu
NM_001256821.2:c.393T>G	NP_001243750.1:p.Phe131Leu
NM_006912.6:c.342T>G MANE Select	NP_008843.1:p.Phe114Leu