Canonical Allele Identifier: CA9964741

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63685870G>A , CM000682.2:g.63685870G>A	GRCh38
NC_000020.10:g.62317223G>A , CM000682.1:g.62317223G>A	GRCh37
NC_000020.9:g.61787667G>A	NCBI36
NG_033901.1:g.33061G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.1346G>A (RTEL1) MANE Select	NP_001269938.1:p.Arg449Gln
ENST00000360203.11:c.1346G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Arg449Gln
NM_001283009.1:c.1346G>A (RTEL1)	NP_001269938.1:p.Arg449Gln
NM_001283010.1:c.677G>A (RTEL1)	NP_001269939.1:p.Arg226Gln
NM_016434.3:c.1346G>A (RTEL1)	NP_057518.1:p.Arg449Gln
NM_016434.4:c.1346G>A (RTEL1)	NP_057518.1:p.Arg449Gln
NM_032957.4:c.1418G>A (RTEL1)	NP_116575.3:p.Arg473Gln
NM_032957.5:c.1418G>A (RTEL1)	NP_116575.3:p.Arg473Gln
NR_037882.1:n.2173G>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.677G>A (RTEL1)	ENSP00000322287.5:p.Arg226Gln
ENST00000318100.9:c.677G>A (RTEL1)	ENSP00000322287.5:p.Arg226Gln
ENST00000360203.9:c.1346G>A (RTEL1)	ENSP00000353332.5:p.Arg449Gln
ENST00000370018.7:c.1346G>A (RTEL1)	ENSP00000359035.3:p.Arg449Gln
ENST00000425905.6:c.1020G>A (RTEL1)
ENST00000425905.7:n.1020G>A (RTEL1)
ENST00000482936.5:c.1346G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Arg449Gln
ENST00000482936.6:c.1346G>A (RTEL1)	ENSP00000457868.2:p.Arg449Gln
ENST00000492259.6:c.1430G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Arg477Gln
ENST00000508582.6:c.1418G>A (RTEL1)	ENSP00000424307.2:p.Arg473Gln
ENST00000508582.7:c.1418G>A (RTEL1)	ENSP00000424307.2:p.Arg473Gln
ENST00000647249.1:n.277G>A (RTEL1)
ENST00000687123.1:n.1176G>A (RTEL1)