Canonical Allele Identifier: CA1151803

Gene: RIT1

Linked Data

• ClinVar Variation Id: 2689872
• ClinVar RCV Id: RCV003491404
• dbSNP Id: rs777520196
• ExAC: 1:155874166 C / T
• gnomAD v2: 1-155874166-C-T
• gnomAD v3: 1-155904375-C-T
• gnomAD v4: 1-155904375-C-T
• COSMIC: COSM1733438
• MyVariant Identifiers: chr1:g.155874166C>T (hg19) ; chr1:g.155904375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904375C>T , CM000663.2:g.155904375C>T	GRCh38
NC_000001.10:g.155874166C>T , CM000663.1:g.155874166C>T	GRCh37
NC_000001.9:g.154140790C>T	NCBI36
NG_033885.1:g.12028G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*94G>A	ENSP00000476319.1:n.*94G>A
ENST00000539040.6:c.257G>A	ENSP00000441950.1:p.Arg86Gln
ENST00000704061.1:c.*36G>A	ENSP00000515664.1:n.*36G>A
ENST00000368323.8:c.365G>A MANE Select	ENSP00000357306.3:p.Arg122Gln
ENST00000651833.1:c.365G>A	ENSP00000498732.1:p.Arg122Gln
ENST00000651853.1:c.368G>A	ENSP00000498685.1:p.Arg123Gln
ENST00000368322.7:c.416G>A	ENSP00000357305.3:p.Arg139Gln
ENST00000368323.7:c.365G>A	ENSP00000357306.3:p.Arg122Gln
ENST00000461050.5:c.*94G>A	ENSP00000476319.1:n.*94G>A
ENST00000539040.5:c.257G>A	ENSP00000441950.1:p.Arg86Gln
ENST00000609492.1:c.365G>A	ENSP00000476612.1:p.Arg122Gln
NM_001256820.1:c.257G>A	NP_001243749.1:p.Arg86Gln
NM_001256821.1:c.416G>A	NP_001243750.1:p.Arg139Gln
NM_006912.5:c.365G>A	NP_008843.1:p.Arg122Gln
NM_001256820.2:c.257G>A	NP_001243749.1:p.Arg86Gln
NM_001256821.2:c.416G>A	NP_001243750.1:p.Arg139Gln
NM_006912.6:c.365G>A MANE Select	NP_008843.1:p.Arg122Gln