Canonical Allele Identifier: CA2374920810
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63672581T= , CM000682.2:g.63672581T= GRCh38
NC_000020.10:g.62303934T= , CM000682.1:g.62303934T= GRCh37
NC_000020.9:g.61774378T= NCBI36
NG_033901.1:g.19772T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000425905.7:n.399T= (RTEL1)
ENST00000425905.6:c.399T= (RTEL1)
ENST00000508582.7:c.797T= (RTEL1) ENSP00000424307.2:p.Leu266=
ENST00000684971.1:n.1156T= (RTEL1)
ENST00000686756.1:n.1043T= (RTEL1)
ENST00000687123.1:n.555T= (RTEL1)
ENST00000692658.1:n.1163T= (RTEL1)
ENST00000692911.1:n.1452T= (RTEL1)
ENST00000318100.9:c.56T= (RTEL1) ENSP00000322287.5:p.Leu19=
ENST00000360203.11:c.725T= (RTEL1) MANE Select ENSP00000353332.5:p.Leu242=
ENST00000482936.6:c.725T= (RTEL1) ENSP00000457868.2:p.Leu242=
ENST00000318100.8:c.56T= (RTEL1) ENSP00000322287.5:p.Leu19=
ENST00000356810.5:c.875T= (RTEL1) ENSP00000349265.4:p.Leu292=
ENST00000360203.9:c.725T= (RTEL1) ENSP00000353332.5:p.Leu242=
ENST00000370018.7:c.725T= (RTEL1) ENSP00000359035.3:p.Leu242=
ENST00000463361.1:n.422T= (RTEL1)
ENST00000482936.5:c.725T= (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Leu242=
ENST00000492259.6:c.725T= (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Leu242=
ENST00000508582.6:c.797T= (RTEL1) ENSP00000424307.2:p.Leu266=
NM_001283009.1:c.725T= (RTEL1) NP_001269938.1:p.Leu242=
NM_001283010.1:c.56T= (RTEL1) NP_001269939.1:p.Leu19=
NM_016434.3:c.725T= (RTEL1) NP_057518.1:p.Leu242=
NM_032957.4:c.797T= (RTEL1) NP_116575.3:p.Leu266=
NR_037882.1:n.1552T= (RTEL1-TNFRSF6B)
NM_001283009.2:c.725T= (RTEL1) MANE Select NP_001269938.1:p.Leu242=
NM_016434.4:c.725T= (RTEL1) NP_057518.1:p.Leu242=
NM_032957.5:c.797T= (RTEL1) NP_116575.3:p.Leu266=