Canonical Allele Identifier: CA342802451

Gene: RIT1

Linked Data

• ClinVar Variation Id: 2074736
• ClinVar RCV Id: RCV002963000 ; RCV002963001
• dbSNP Id: rs1396631322
• gnomAD v2: 1-155874196-C-T
• gnomAD v3: 1-155904405-C-T
• gnomAD v4: 1-155904405-C-T
• MyVariant Identifiers: chr1:g.155874196C>T (hg19) ; chr1:g.155904405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904405C>T , CM000663.2:g.155904405C>T	GRCh38
NC_000001.10:g.155874196C>T , CM000663.1:g.155874196C>T	GRCh37
NC_000001.9:g.154140820C>T	NCBI36
NG_033885.1:g.11998G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*64G>A	ENSP00000476319.1:n.*64G>A
ENST00000539040.6:c.227G>A	ENSP00000441950.1:p.Arg76His
ENST00000704061.1:c.*6G>A	ENSP00000515664.1:n.*6G>A
ENST00000368323.8:c.335G>A MANE Select	ENSP00000357306.3:p.Arg112His
ENST00000651833.1:c.335G>A	ENSP00000498732.1:p.Arg112His
ENST00000651853.1:c.338G>A	ENSP00000498685.1:p.Arg113His
ENST00000368322.7:c.386G>A	ENSP00000357305.3:p.Arg129His
ENST00000368323.7:c.335G>A	ENSP00000357306.3:p.Arg112His
ENST00000461050.5:c.*64G>A	ENSP00000476319.1:n.*64G>A
ENST00000539040.5:c.227G>A	ENSP00000441950.1:p.Arg76His
ENST00000609492.1:c.335G>A	ENSP00000476612.1:p.Arg112His
NM_001256820.1:c.227G>A	NP_001243749.1:p.Arg76His
NM_001256821.1:c.386G>A	NP_001243750.1:p.Arg129His
NM_006912.5:c.335G>A	NP_008843.1:p.Arg112His
NM_001256820.2:c.227G>A	NP_001243749.1:p.Arg76His
NM_001256821.2:c.386G>A	NP_001243750.1:p.Arg129His
NM_006912.6:c.335G>A MANE Select	NP_008843.1:p.Arg112His