Canonical Allele Identifier: CA9964300
Community Standard Title: NM_001283009.2(RTEL1):c.489C>T (p.Cys163=)
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63662840C>T , CM000682.2:g.63662840C>T GRCh38
NC_000020.10:g.62294193C>T , CM000682.1:g.62294193C>T GRCh37
NC_000020.9:g.61764637C>T NCBI36
NG_033901.1:g.10031C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.489C>T (RTEL1) MANE Select NP_001269938.1:p.Cys163=
ENST00000360203.11:c.489C>T (RTEL1) MANE Select ENSP00000353332.5:p.Cys163=
NM_001283009.1:c.489C>T (RTEL1) NP_001269938.1:p.Cys163=
NM_001283010.1:c.-181C>T (RTEL1) NP_001269939.1:n.-181C>T
NM_016434.3:c.489C>T (RTEL1) NP_057518.1:p.Cys163=
NM_016434.4:c.489C>T (RTEL1) NP_057518.1:p.Cys163=
NM_032957.4:c.561C>T (RTEL1) NP_116575.3:p.Cys187=
NM_032957.5:c.561C>T (RTEL1) NP_116575.3:p.Cys187=
NR_037882.1:n.1316C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-181C>T (RTEL1) ENSP00000322287.5:n.-181C>T
ENST00000318100.9:c.-181C>T (RTEL1) ENSP00000322287.5:n.-181C>T
ENST00000356810.5:c.639C>T (RTEL1) ENSP00000349265.4:p.Cys213=
ENST00000360203.9:c.489C>T (RTEL1) ENSP00000353332.5:p.Cys163=
ENST00000370018.7:c.489C>T (RTEL1) ENSP00000359035.3:p.Cys163=
ENST00000425905.6:c.163C>T (RTEL1)
ENST00000425905.7:n.163C>T (RTEL1)
ENST00000482936.5:c.489C>T (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Cys163=
ENST00000482936.6:c.489C>T (RTEL1) ENSP00000457868.2:p.Cys163=
ENST00000492259.6:c.489C>T (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Cys163=
ENST00000508582.6:c.561C>T (RTEL1) ENSP00000424307.2:p.Cys187=
ENST00000508582.7:c.561C>T (RTEL1) ENSP00000424307.2:p.Cys187=
ENST00000645309.1:n.186C>T (RTEL1)
ENST00000684971.1:n.920C>T (RTEL1)
ENST00000686756.1:n.807C>T (RTEL1)
ENST00000687123.1:n.319C>T (RTEL1)
ENST00000692658.1:n.927C>T (RTEL1)
ENST00000692911.1:n.1216C>T (RTEL1)