Canonical Allele Identifier: CA2374935860
Community Standard Title: NM_001283009.2(RTEL1):c.3791G= (p.Arg1264=)
Gene: RTEL1-TNFRSF6B HGNC NCBI
RTEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63695619G= , CM000682.2:g.63695619G= GRCh38
NC_000020.10:g.62326972G= , CM000682.1:g.62326972G= GRCh37
NC_000020.9:g.61797416G= NCBI36
NG_033901.1:g.42810G=
NG_046961.1:g.3969G=

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.3791G= (RTEL1) MANE Select NP_001269938.1:p.Arg1264=
ENST00000360203.11:c.3791G= (RTEL1) MANE Select ENSP00000353332.5:p.Arg1264=
NM_001283009.1:c.3791G= (RTEL1) NP_001269938.1:p.Arg1264=
NM_001283010.1:c.2983+139G= (RTEL1) NP_001269939.1:n.2983+139G=
NM_016434.3:c.3652+139G= (RTEL1) NP_057518.1:n.3652+139G=
NM_016434.4:c.3652+139G= (RTEL1) NP_057518.1:n.3652+139G=
NM_032957.4:c.3724+139G= (RTEL1) NP_116575.3:n.3724+139G=
NM_032957.5:c.3724+139G= (RTEL1) NP_116575.3:n.3724+139G=
NR_037882.1:n.4618G= (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2983+139G= (RTEL1) ENSP00000322287.5:n.2983+139G=
ENST00000318100.9:c.2983+139G= (RTEL1) ENSP00000322287.5:n.2983+139G=
ENST00000360203.9:c.3791G= (RTEL1) ENSP00000353332.5:p.Arg1264=
ENST00000370003.2:c.1526G= (RTEL1) ENSP00000359020.1:p.Arg509=
ENST00000370018.7:c.3652+139G= (RTEL1) ENSP00000359035.3:n.3652+139G=
ENST00000480273.5:n.3737+139G= (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3791G= (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Arg1264=
ENST00000492259.6:c.*1254+139G= (RTEL1-TNFRSF6B) ENSP00000457428.1:n.*1254+139G=
ENST00000496281.1:n.3273G= (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3802G= (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1723G= (RTEL1) ENSP00000425576.1:n.1723G=
ENST00000508582.6:c.3724+139G= (RTEL1) ENSP00000424307.2:n.3724+139G=
ENST00000508582.7:c.3724+139G= (RTEL1) ENSP00000424307.2:n.3724+139G=
ENST00000697815.1:n.2538G= (RTEL1-TNFRSF6B)