Canonical Allele Identifier: CA2374920819
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63672603T= , CM000682.2:g.63672603T= GRCh38
NC_000020.10:g.62303956T= , CM000682.1:g.62303956T= GRCh37
NC_000020.9:g.61774400T= NCBI36
NG_033901.1:g.19794T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000425905.7:n.421T= (RTEL1)
ENST00000425905.6:c.421T= (RTEL1)
ENST00000508582.7:c.819T= (RTEL1) ENSP00000424307.2:p.Phe273=
ENST00000684971.1:n.1178T= (RTEL1)
ENST00000686756.1:n.1065T= (RTEL1)
ENST00000687123.1:n.577T= (RTEL1)
ENST00000692658.1:n.1185T= (RTEL1)
ENST00000692911.1:n.1474T= (RTEL1)
ENST00000318100.9:c.78T= (RTEL1) ENSP00000322287.5:p.Phe26=
ENST00000360203.11:c.747T= (RTEL1) MANE Select ENSP00000353332.5:p.Phe249=
ENST00000482936.6:c.747T= (RTEL1) ENSP00000457868.2:p.Phe249=
ENST00000318100.8:c.78T= (RTEL1) ENSP00000322287.5:p.Phe26=
ENST00000356810.5:c.897T= (RTEL1) ENSP00000349265.4:p.Phe299=
ENST00000360203.9:c.747T= (RTEL1) ENSP00000353332.5:p.Phe249=
ENST00000370018.7:c.747T= (RTEL1) ENSP00000359035.3:p.Phe249=
ENST00000463361.1:n.444T= (RTEL1)
ENST00000482936.5:c.747T= (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Phe249=
ENST00000492259.6:c.747T= (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Phe249=
ENST00000508582.6:c.819T= (RTEL1) ENSP00000424307.2:p.Phe273=
NM_001283009.1:c.747T= (RTEL1) NP_001269938.1:p.Phe249=
NM_001283010.1:c.78T= (RTEL1) NP_001269939.1:p.Phe26=
NM_016434.3:c.747T= (RTEL1) NP_057518.1:p.Phe249=
NM_032957.4:c.819T= (RTEL1) NP_116575.3:p.Phe273=
NR_037882.1:n.1574T= (RTEL1-TNFRSF6B)
NM_001283009.2:c.747T= (RTEL1) MANE Select NP_001269938.1:p.Phe249=
NM_016434.4:c.747T= (RTEL1) NP_057518.1:p.Phe249=
NM_032957.5:c.819T= (RTEL1) NP_116575.3:p.Phe273=