Canonical Allele Identifier: CA409680018
Community Standard Title: NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63690205C>T , CM000682.2:g.63690205C>T GRCh38
NC_000020.10:g.62321558C>T , CM000682.1:g.62321558C>T GRCh37
NC_000020.9:g.61792002C>T NCBI36
NG_033901.1:g.37396C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.2260C>T (RTEL1) MANE Select NP_001269938.1:p.Arg754Ter
ENST00000360203.11:c.2260C>T (RTEL1) MANE Select ENSP00000353332.5:p.Arg754Ter
NM_001283009.1:c.2260C>T (RTEL1) NP_001269938.1:p.Arg754Ter
NM_001283010.1:c.1591C>T (RTEL1) NP_001269939.1:p.Arg531Ter
NM_016434.3:c.2260C>T (RTEL1) NP_057518.1:p.Arg754Ter
NM_016434.4:c.2260C>T (RTEL1) NP_057518.1:p.Arg754Ter
NM_032957.4:c.2332C>T (RTEL1) NP_116575.3:p.Arg778Ter
NM_032957.5:c.2332C>T (RTEL1) NP_116575.3:p.Arg778Ter
NR_037882.1:n.3087C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1591C>T (RTEL1) ENSP00000322287.5:p.Arg531Ter
ENST00000318100.9:c.1591C>T (RTEL1) ENSP00000322287.5:p.Arg531Ter
ENST00000360203.9:c.2260C>T (RTEL1) ENSP00000353332.5:p.Arg754Ter
ENST00000370003.2:c.-6C>T (RTEL1) ENSP00000359020.1:n.-6C>T
ENST00000370018.7:c.2260C>T (RTEL1) ENSP00000359035.3:p.Arg754Ter
ENST00000425905.5:c.439C>T (RTEL1) ENSP00000388063.1:p.Arg147Ter
ENST00000425905.6:c.1787C>T (RTEL1)
ENST00000425905.7:n.1787C>T (RTEL1)
ENST00000480273.5:n.2345C>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2260C>T (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Arg754Ter
ENST00000482936.6:c.2260C>T (RTEL1) ENSP00000457868.2:p.Arg754Ter
ENST00000492259.6:c.2226-89C>T (RTEL1-TNFRSF6B) ENSP00000457428.1:n.2226-89C>T
ENST00000496281.1:n.775C>T (RTEL1-TNFRSF6B)
ENST00000496281.2:n.1304C>T (RTEL1-TNFRSF6B)
ENST00000496816.5:c.139C>T (RTEL1) ENSP00000425576.1:p.Arg47Ter
ENST00000508582.6:c.2332C>T (RTEL1) ENSP00000424307.2:p.Arg778Ter
ENST00000508582.7:c.2332C>T (RTEL1) ENSP00000424307.2:p.Arg778Ter
ENST00000687123.1:n.1886C>T (RTEL1)
ENST00000697815.1:n.219C>T (RTEL1-TNFRSF6B)