Canonical Allele Identifier: CA342802815

Gene: RIT1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_006912.6:c.268A>C MANE Select	NP_008843.1:p.Met90Leu
ENST00000368323.8:c.268A>C MANE Select	ENSP00000357306.3:p.Met90Leu
NM_001256820.1:c.160A>C	NP_001243749.1:p.Met54Leu
NM_001256820.2:c.160A>C	NP_001243749.1:p.Met54Leu
NM_001256821.1:c.319A>C	NP_001243750.1:p.Met107Leu
NM_001256821.2:c.319A>C	NP_001243750.1:p.Met107Leu
NM_006912.5:c.268A>C	NP_008843.1:p.Met90Leu
ENST00000368322.7:c.319A>C	ENSP00000357305.3:p.Met107Leu
ENST00000368323.7:c.268A>C	ENSP00000357306.3:p.Met90Leu
ENST00000461050.5:c.276A>C	ENSP00000476319.1:p.Ile92=
ENST00000461050.6:c.276A>C	ENSP00000476319.1:p.Ile92=
ENST00000539040.5:c.160A>C	ENSP00000441950.1:p.Met54Leu
ENST00000539040.6:c.160A>C	ENSP00000441950.1:p.Met54Leu
ENST00000609492.1:c.268A>C	ENSP00000476612.1:p.Met90Leu
ENST00000651833.1:c.268A>C	ENSP00000498732.1:p.Met90Leu
ENST00000651853.1:c.271A>C	ENSP00000498685.1:p.Met91Leu
ENST00000704061.1:c.245A>C	ENSP00000515664.1:p.Tyr82Ser