Canonical Allele Identifier: CA9965374

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63690874G>A , CM000682.2:g.63690874G>A	GRCh38
NC_000020.10:g.62322227G>A , CM000682.1:g.62322227G>A	GRCh37
NC_000020.9:g.61792671G>A	NCBI36
NG_033901.1:g.38065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.2010G>A (RTEL1)
ENST00000425905.6:c.2010G>A (RTEL1)
ENST00000697815.1:n.442G>A (RTEL1-TNFRSF6B)
ENST00000508582.7:c.2555G>A (RTEL1)	ENSP00000424307.2:p.Arg852Gln
ENST00000318100.9:c.1814G>A (RTEL1)	ENSP00000322287.5:p.Arg605Gln
ENST00000360203.11:c.2483G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Arg828Gln
ENST00000482936.6:c.2483G>A (RTEL1)	ENSP00000457868.2:p.Arg828Gln
ENST00000496281.2:n.1527G>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1814G>A (RTEL1)	ENSP00000322287.5:p.Arg605Gln
ENST00000360203.9:c.2483G>A (RTEL1)	ENSP00000353332.5:p.Arg828Gln
ENST00000370003.2:c.218G>A (RTEL1)	ENSP00000359020.1:p.Arg73Gln
ENST00000370018.7:c.2483G>A (RTEL1)	ENSP00000359035.3:p.Arg828Gln
ENST00000425905.5:c.662G>A (RTEL1)	ENSP00000388063.1:p.Arg221Gln
ENST00000480273.5:n.2568G>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2483G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Arg828Gln
ENST00000492259.6:c.*85G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*85G>A
ENST00000496281.1:n.998G>A (RTEL1-TNFRSF6B)
ENST00000496816.5:c.362G>A (RTEL1)	ENSP00000425576.1:p.Arg121Gln
ENST00000508582.6:c.2555G>A (RTEL1)	ENSP00000424307.2:p.Arg852Gln
NM_001283009.1:c.2483G>A (RTEL1)	NP_001269938.1:p.Arg828Gln
NM_001283010.1:c.1814G>A (RTEL1)	NP_001269939.1:p.Arg605Gln
NM_016434.3:c.2483G>A (RTEL1)	NP_057518.1:p.Arg828Gln
NM_032957.4:c.2555G>A (RTEL1)	NP_116575.3:p.Arg852Gln
NR_037882.1:n.3310G>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.2483G>A (RTEL1) MANE Select	NP_001269938.1:p.Arg828Gln
NM_016434.4:c.2483G>A (RTEL1)	NP_057518.1:p.Arg828Gln
NM_032957.5:c.2555G>A (RTEL1)	NP_116575.3:p.Arg852Gln