Canonical Allele Identifier: CA409676213

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63687668C>T , CM000682.2:g.63687668C>T	GRCh38
NC_000020.10:g.62319021C>T , CM000682.1:g.62319021C>T	GRCh37
NC_000020.9:g.61789465C>T	NCBI36
NG_033901.1:g.34859C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.1379C>T (RTEL1) MANE Select	NP_001269938.1:p.Pro460Leu
ENST00000360203.11:c.1379C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Pro460Leu
NM_001283009.1:c.1379C>T (RTEL1)	NP_001269938.1:p.Pro460Leu
NM_001283010.1:c.710C>T (RTEL1)	NP_001269939.1:p.Pro237Leu
NM_016434.3:c.1379C>T (RTEL1)	NP_057518.1:p.Pro460Leu
NM_016434.4:c.1379C>T (RTEL1)	NP_057518.1:p.Pro460Leu
NM_032957.4:c.1451C>T (RTEL1)	NP_116575.3:p.Pro484Leu
NM_032957.5:c.1451C>T (RTEL1)	NP_116575.3:p.Pro484Leu
NR_037882.1:n.2206C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.710C>T (RTEL1)	ENSP00000322287.5:p.Pro237Leu
ENST00000318100.9:c.710C>T (RTEL1)	ENSP00000322287.5:p.Pro237Leu
ENST00000360203.9:c.1379C>T (RTEL1)	ENSP00000353332.5:p.Pro460Leu
ENST00000370018.7:c.1379C>T (RTEL1)	ENSP00000359035.3:p.Pro460Leu
ENST00000425905.6:c.1053C>T (RTEL1)
ENST00000425905.7:n.1053C>T (RTEL1)
ENST00000480273.5:n.1298C>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.1379C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Pro460Leu
ENST00000482936.6:c.1379C>T (RTEL1)	ENSP00000457868.2:p.Pro460Leu
ENST00000492259.6:c.1463C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Pro488Leu
ENST00000508582.6:c.1451C>T (RTEL1)	ENSP00000424307.2:p.Pro484Leu
ENST00000508582.7:c.1451C>T (RTEL1)	ENSP00000424307.2:p.Pro484Leu
ENST00000687123.1:n.1209C>T (RTEL1)