Canonical Allele Identifier: CA9965149

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63689764G>T , CM000682.2:g.63689764G>T	GRCh38
NC_000020.10:g.62321117G>T , CM000682.1:g.62321117G>T	GRCh37
NC_000020.9:g.61791561G>T	NCBI36
NG_033901.1:g.36955G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2040G>T (RTEL1) MANE Select	NP_001269938.1:p.Gln680His
ENST00000360203.11:c.2040G>T (RTEL1) MANE Select	ENSP00000353332.5:p.Gln680His
NM_001283009.1:c.2040G>T (RTEL1)	NP_001269938.1:p.Gln680His
NM_001283010.1:c.1371G>T (RTEL1)	NP_001269939.1:p.Gln457His
NM_016434.3:c.2040G>T (RTEL1)	NP_057518.1:p.Gln680His
NM_016434.4:c.2040G>T (RTEL1)	NP_057518.1:p.Gln680His
NM_032957.4:c.2112G>T (RTEL1)	NP_116575.3:p.Gln704His
NM_032957.5:c.2112G>T (RTEL1)	NP_116575.3:p.Gln704His
NR_037882.1:n.2867G>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1371G>T (RTEL1)	ENSP00000322287.5:p.Gln457His
ENST00000318100.9:c.1371G>T (RTEL1)	ENSP00000322287.5:p.Gln457His
ENST00000360203.9:c.2040G>T (RTEL1)	ENSP00000353332.5:p.Gln680His
ENST00000370018.7:c.2040G>T (RTEL1)	ENSP00000359035.3:p.Gln680His
ENST00000425905.5:c.219G>T (RTEL1)	ENSP00000388063.1:p.Gln73His
ENST00000425905.6:c.1567G>T (RTEL1)
ENST00000425905.7:n.1567G>T (RTEL1)
ENST00000480273.5:n.2125G>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2040G>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Gln680His
ENST00000482936.6:c.2040G>T (RTEL1)	ENSP00000457868.2:p.Gln680His
ENST00000492259.6:c.2124G>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Gln708His
ENST00000496281.1:n.334G>T (RTEL1-TNFRSF6B)
ENST00000496281.2:n.863G>T (RTEL1-TNFRSF6B)
ENST00000508582.6:c.2112G>T (RTEL1)	ENSP00000424307.2:p.Gln704His
ENST00000508582.7:c.2112G>T (RTEL1)	ENSP00000424307.2:p.Gln704His
ENST00000687123.1:n.1723G>T (RTEL1)
ENST00000697814.1:n.230G>T (RTEL1)