Canonical Allele Identifier: CA9965301
Community Standard Title: NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=)
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63690380C>T , CM000682.2:g.63690380C>T GRCh38
NC_000020.10:g.62321733C>T , CM000682.1:g.62321733C>T GRCh37
NC_000020.9:g.61792177C>T NCBI36
NG_033901.1:g.37571C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.2352C>T (RTEL1) MANE Select NP_001269938.1:p.Phe784=
ENST00000360203.11:c.2352C>T (RTEL1) MANE Select ENSP00000353332.5:p.Phe784=
NM_001283009.1:c.2352C>T (RTEL1) NP_001269938.1:p.Phe784=
NM_001283010.1:c.1683C>T (RTEL1) NP_001269939.1:p.Phe561=
NM_016434.3:c.2352C>T (RTEL1) NP_057518.1:p.Phe784=
NM_016434.4:c.2352C>T (RTEL1) NP_057518.1:p.Phe784=
NM_032957.4:c.2424C>T (RTEL1) NP_116575.3:p.Phe808=
NM_032957.5:c.2424C>T (RTEL1) NP_116575.3:p.Phe808=
NR_037882.1:n.3179C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1683C>T (RTEL1) ENSP00000322287.5:p.Phe561=
ENST00000318100.9:c.1683C>T (RTEL1) ENSP00000322287.5:p.Phe561=
ENST00000360203.9:c.2352C>T (RTEL1) ENSP00000353332.5:p.Phe784=
ENST00000370003.2:c.87C>T (RTEL1) ENSP00000359020.1:p.Phe29=
ENST00000370018.7:c.2352C>T (RTEL1) ENSP00000359035.3:p.Phe784=
ENST00000425905.5:c.531C>T (RTEL1) ENSP00000388063.1:p.Phe177=
ENST00000425905.6:c.1879C>T (RTEL1)
ENST00000425905.7:n.1879C>T (RTEL1)
ENST00000480273.5:n.2437C>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2352C>T (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Phe784=
ENST00000482936.6:c.2352C>T (RTEL1) ENSP00000457868.2:p.Phe784=
ENST00000492259.6:c.2312C>T (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Ser771Phe
ENST00000496281.1:n.867C>T (RTEL1-TNFRSF6B)
ENST00000496281.2:n.1396C>T (RTEL1-TNFRSF6B)
ENST00000496816.5:c.231C>T (RTEL1) ENSP00000425576.1:p.Phe77=
ENST00000508582.6:c.2424C>T (RTEL1) ENSP00000424307.2:p.Phe808=
ENST00000508582.7:c.2424C>T (RTEL1) ENSP00000424307.2:p.Phe808=
ENST00000697815.1:n.311C>T (RTEL1-TNFRSF6B)