Canonical Allele Identifier: CA1151802

Gene: RIT1

Linked Data

• ClinVar Variation Id: 2865869
• ClinVar RCV Id: RCV003742363
• dbSNP Id: rs755664065
• ExAC: 1:155874165 T / C
• gnomAD v2: 1-155874165-T-C
• gnomAD v3: 1-155904374-T-C
• gnomAD v4: 1-155904374-T-C
• MyVariant Identifiers: chr1:g.155874165T>C (hg19) ; chr1:g.155904374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155904374T>C , CM000663.2:g.155904374T>C	GRCh38
NC_000001.10:g.155874165T>C , CM000663.1:g.155874165T>C	GRCh37
NC_000001.9:g.154140789T>C	NCBI36
NG_033885.1:g.12029A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461050.6:c.*95A>G	ENSP00000476319.1:n.*95A>G
ENST00000539040.6:c.258A>G	ENSP00000441950.1:p.Arg86=
ENST00000704061.1:c.*37A>G	ENSP00000515664.1:n.*37A>G
ENST00000368323.8:c.366A>G MANE Select	ENSP00000357306.3:p.Arg122=
ENST00000651833.1:c.366A>G	ENSP00000498732.1:p.Arg122=
ENST00000651853.1:c.369A>G	ENSP00000498685.1:p.Arg123=
ENST00000368322.7:c.417A>G	ENSP00000357305.3:p.Arg139=
ENST00000368323.7:c.366A>G	ENSP00000357306.3:p.Arg122=
ENST00000461050.5:c.*95A>G	ENSP00000476319.1:n.*95A>G
ENST00000539040.5:c.258A>G	ENSP00000441950.1:p.Arg86=
ENST00000609492.1:c.366A>G	ENSP00000476612.1:p.Arg122=
NM_001256820.1:c.258A>G	NP_001243749.1:p.Arg86=
NM_001256821.1:c.417A>G	NP_001243750.1:p.Arg139=
NM_006912.5:c.366A>G	NP_008843.1:p.Arg122=
NM_001256820.2:c.258A>G	NP_001243749.1:p.Arg86=
NM_001256821.2:c.417A>G	NP_001243750.1:p.Arg139=
NM_006912.6:c.366A>G MANE Select	NP_008843.1:p.Arg122=