Canonical Allele Identifier: CA409681390

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63690819G>C , CM000682.2:g.63690819G>C	GRCh38
NC_000020.10:g.62322172G>C , CM000682.1:g.62322172G>C	GRCh37
NC_000020.9:g.61792616G>C	NCBI36
NG_033901.1:g.38010G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2428G>C (RTEL1) MANE Select	NP_001269938.1:p.Gly810Arg
ENST00000360203.11:c.2428G>C (RTEL1) MANE Select	ENSP00000353332.5:p.Gly810Arg
NM_001283009.1:c.2428G>C (RTEL1)	NP_001269938.1:p.Gly810Arg
NM_001283010.1:c.1759G>C (RTEL1)	NP_001269939.1:p.Gly587Arg
NM_016434.3:c.2428G>C (RTEL1)	NP_057518.1:p.Gly810Arg
NM_016434.4:c.2428G>C (RTEL1)	NP_057518.1:p.Gly810Arg
NM_032957.4:c.2500G>C (RTEL1)	NP_116575.3:p.Gly834Arg
NM_032957.5:c.2500G>C (RTEL1)	NP_116575.3:p.Gly834Arg
NR_037882.1:n.3255G>C (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1759G>C (RTEL1)	ENSP00000322287.5:p.Gly587Arg
ENST00000318100.9:c.1759G>C (RTEL1)	ENSP00000322287.5:p.Gly587Arg
ENST00000360203.9:c.2428G>C (RTEL1)	ENSP00000353332.5:p.Gly810Arg
ENST00000370003.2:c.163G>C (RTEL1)	ENSP00000359020.1:p.Gly55Arg
ENST00000370018.7:c.2428G>C (RTEL1)	ENSP00000359035.3:p.Gly810Arg
ENST00000425905.5:c.607G>C (RTEL1)	ENSP00000388063.1:p.Gly203Arg
ENST00000425905.6:c.1955G>C (RTEL1)
ENST00000425905.7:n.1955G>C (RTEL1)
ENST00000480273.5:n.2513G>C (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2428G>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Gly810Arg
ENST00000482936.6:c.2428G>C (RTEL1)	ENSP00000457868.2:p.Gly810Arg
ENST00000492259.6:c.*30G>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*30G>C
ENST00000496281.1:n.943G>C (RTEL1-TNFRSF6B)
ENST00000496281.2:n.1472G>C (RTEL1-TNFRSF6B)
ENST00000496816.5:c.307G>C (RTEL1)	ENSP00000425576.1:p.Gly103Arg
ENST00000508582.6:c.2500G>C (RTEL1)	ENSP00000424307.2:p.Gly834Arg
ENST00000508582.7:c.2500G>C (RTEL1)	ENSP00000424307.2:p.Gly834Arg
ENST00000697815.1:n.387G>C (RTEL1-TNFRSF6B)