Canonical Allele Identifier: CA9965223
Community Standard Title: NM_001283009.2(RTEL1):c.2191C>T (p.His731Tyr)
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63690136C>T , CM000682.2:g.63690136C>T GRCh38
NC_000020.10:g.62321489C>T , CM000682.1:g.62321489C>T GRCh37
NC_000020.9:g.61791933C>T NCBI36
NG_033901.1:g.37327C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.2191C>T (RTEL1) MANE Select NP_001269938.1:p.His731Tyr
ENST00000360203.11:c.2191C>T (RTEL1) MANE Select ENSP00000353332.5:p.His731Tyr
NM_001283009.1:c.2191C>T (RTEL1) NP_001269938.1:p.His731Tyr
NM_001283010.1:c.1522C>T (RTEL1) NP_001269939.1:p.His508Tyr
NM_016434.3:c.2191C>T (RTEL1) NP_057518.1:p.His731Tyr
NM_016434.4:c.2191C>T (RTEL1) NP_057518.1:p.His731Tyr
NM_032957.4:c.2263C>T (RTEL1) NP_116575.3:p.His755Tyr
NM_032957.5:c.2263C>T (RTEL1) NP_116575.3:p.His755Tyr
NR_037882.1:n.3018C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1522C>T (RTEL1) ENSP00000322287.5:p.His508Tyr
ENST00000318100.9:c.1522C>T (RTEL1) ENSP00000322287.5:p.His508Tyr
ENST00000360203.9:c.2191C>T (RTEL1) ENSP00000353332.5:p.His731Tyr
ENST00000370003.2:c.-75C>T (RTEL1) ENSP00000359020.1:n.-75C>T
ENST00000370018.7:c.2191C>T (RTEL1) ENSP00000359035.3:p.His731Tyr
ENST00000425905.5:c.370C>T (RTEL1) ENSP00000388063.1:p.His124Tyr
ENST00000425905.6:c.1718C>T (RTEL1)
ENST00000425905.7:n.1718C>T (RTEL1)
ENST00000480273.5:n.2276C>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2191C>T (RTEL1-TNFRSF6B) ENSP00000457868.1:p.His731Tyr
ENST00000482936.6:c.2191C>T (RTEL1) ENSP00000457868.2:p.His731Tyr
ENST00000492259.6:c.2226-158C>T (RTEL1-TNFRSF6B) ENSP00000457428.1:n.2226-158C>T
ENST00000496281.1:n.706C>T (RTEL1-TNFRSF6B)
ENST00000496281.2:n.1235C>T (RTEL1-TNFRSF6B)
ENST00000496816.5:c.70C>T (RTEL1) ENSP00000425576.1:p.His24Tyr
ENST00000508582.6:c.2263C>T (RTEL1) ENSP00000424307.2:p.His755Tyr
ENST00000508582.7:c.2263C>T (RTEL1) ENSP00000424307.2:p.His755Tyr
ENST00000687123.1:n.1825-8C>T (RTEL1)
ENST00000697814.1:n.502C>T (RTEL1)
ENST00000697815.1:n.150C>T (RTEL1-TNFRSF6B)