Canonical Allele Identifier: CA10602738

Gene: RIT1

Linked Data

• ClinVar Variation Id: 280609
• ClinVar RCV Id: RCV000357501 ; RCV001037285 ; RCV002051722 ; RCV001813444
• dbSNP Id: rs777520196
• gnomAD v4: 1-155904375-C-A
• COSMIC: COSM314820
• MyVariant Identifiers: chr1:g.155874166C>A (hg19) ; chr1:g.155904375C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461050.6:c.*94G>T	ENSP00000476319.1:n.*94G>T
ENST00000539040.6:c.257G>T	ENSP00000441950.1:p.Arg86Leu
ENST00000704061.1:c.*36G>T	ENSP00000515664.1:n.*36G>T
ENST00000368323.8:c.365G>T MANE Select	ENSP00000357306.3:p.Arg122Leu
ENST00000651833.1:c.365G>T	ENSP00000498732.1:p.Arg122Leu
ENST00000651853.1:c.368G>T	ENSP00000498685.1:p.Arg123Leu
ENST00000368322.7:c.416G>T	ENSP00000357305.3:p.Arg139Leu
ENST00000368323.7:c.365G>T	ENSP00000357306.3:p.Arg122Leu
ENST00000461050.5:c.*94G>T	ENSP00000476319.1:n.*94G>T
ENST00000539040.5:c.257G>T	ENSP00000441950.1:p.Arg86Leu
ENST00000609492.1:c.365G>T	ENSP00000476612.1:p.Arg122Leu
NM_001256820.1:c.257G>T	NP_001243749.1:p.Arg86Leu
NM_001256821.1:c.416G>T	NP_001243750.1:p.Arg139Leu
NM_006912.5:c.365G>T	NP_008843.1:p.Arg122Leu
NM_001256820.2:c.257G>T	NP_001243749.1:p.Arg86Leu
NM_001256821.2:c.416G>T	NP_001243750.1:p.Arg139Leu
NM_006912.6:c.365G>T MANE Select	NP_008843.1:p.Arg122Leu