Canonical Allele Identifier: CA2374933220
Community Standard Title: NM_001283009.2(RTEL1):c.2956C= (p.Arg986=)
Gene: RTEL1-TNFRSF6B HGNC NCBI
RTEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63693247C= , CM000682.2:g.63693247C= GRCh38
NC_000020.10:g.62324600C= , CM000682.1:g.62324600C= GRCh37
NC_000020.9:g.61795044C= NCBI36
NG_033901.1:g.40438C=
NG_046961.1:g.1597C=

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.2956C= (RTEL1) MANE Select NP_001269938.1:p.Arg986=
ENST00000360203.11:c.2956C= (RTEL1) MANE Select ENSP00000353332.5:p.Arg986=
NM_001283009.1:c.2956C= (RTEL1) NP_001269938.1:p.Arg986=
NM_001283010.1:c.2287C= (RTEL1) NP_001269939.1:p.Arg763=
NM_016434.3:c.2956C= (RTEL1) NP_057518.1:p.Arg986=
NM_016434.4:c.2956C= (RTEL1) NP_057518.1:p.Arg986=
NM_032957.4:c.3028C= (RTEL1) NP_116575.3:p.Arg1010=
NM_032957.5:c.3028C= (RTEL1) NP_116575.3:p.Arg1010=
NR_037882.1:n.3783C= (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2287C= (RTEL1) ENSP00000322287.5:p.Arg763=
ENST00000318100.9:c.2287C= (RTEL1) ENSP00000322287.5:p.Arg763=
ENST00000360203.9:c.2956C= (RTEL1) ENSP00000353332.5:p.Arg986=
ENST00000370003.2:c.691C= (RTEL1) ENSP00000359020.1:p.Arg231=
ENST00000370018.7:c.2956C= (RTEL1) ENSP00000359035.3:p.Arg986=
ENST00000480273.5:n.3041C= (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2956C= (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Arg986=
ENST00000482936.6:c.2956C= (RTEL1) ENSP00000457868.2:p.Arg986=
ENST00000492259.6:c.*558C= (RTEL1-TNFRSF6B) ENSP00000457428.1:n.*558C=
ENST00000496281.1:n.2438C= (RTEL1-TNFRSF6B)
ENST00000496281.2:n.2967C= (RTEL1-TNFRSF6B)
ENST00000496816.5:c.835C= (RTEL1) ENSP00000425576.1:p.Arg279=
ENST00000508582.6:c.3028C= (RTEL1) ENSP00000424307.2:p.Arg1010=
ENST00000508582.7:c.3028C= (RTEL1) ENSP00000424307.2:p.Arg1010=
ENST00000697815.1:n.1703C= (RTEL1-TNFRSF6B)