Canonical Allele Identifier: CA2648310667

Gene: RIT1

Linked Data

• gnomAD v4: 1-155904288-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904288A>G , CM000663.2:g.155904288A>G	GRCh38
NC_000001.10:g.155874079A>G , CM000663.1:g.155874079A>G	GRCh37
NC_000001.9:g.154140703A>G	NCBI36
NG_033885.1:g.12115T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*158+23T>C	ENSP00000476319.1:n.*158+23T>C
ENST00000539040.6:c.321+23T>C	ENSP00000441950.1:n.321+23T>C
ENST00000704061.1:c.*100+23T>C	ENSP00000515664.1:n.*100+23T>C
ENST00000368323.8:c.429+23T>C MANE Select	ENSP00000357306.3:n.429+23T>C
ENST00000651853.1:c.432+23T>C	ENSP00000498685.1:n.432+23T>C
ENST00000368322.7:c.480+23T>C	ENSP00000357305.3:n.480+23T>C
ENST00000368323.7:c.429+23T>C	ENSP00000357306.3:n.429+23T>C
ENST00000461050.5:c.*158+23T>C	ENSP00000476319.1:n.*158+23T>C
ENST00000539040.5:c.321+23T>C	ENSP00000441950.1:n.321+23T>C
ENST00000609492.1:c.429+23T>C	ENSP00000476612.1:n.429+23T>C
NM_001256820.1:c.321+23T>C	NP_001243749.1:n.321+23T>C
NM_001256821.1:c.480+23T>C	NP_001243750.1:n.480+23T>C
NM_006912.5:c.429+23T>C	NP_008843.1:n.429+23T>C
NM_001256820.2:c.321+23T>C	NP_001243749.1:n.321+23T>C
NM_001256821.2:c.480+23T>C	NP_001243750.1:n.480+23T>C
NM_006912.6:c.429+23T>C MANE Select	NP_008843.1:n.429+23T>C