Canonical Allele Identifier: CA409683242

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63693178C>T , CM000682.2:g.63693178C>T	GRCh38
NC_000020.10:g.62324531C>T , CM000682.1:g.62324531C>T	GRCh37
NC_000020.9:g.61794975C>T	NCBI36
NG_033901.1:g.40369C>T
NG_046961.1:g.1528C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2887C>T (RTEL1) MANE Select	NP_001269938.1:p.Gln963Ter
ENST00000360203.11:c.2887C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Gln963Ter
NM_001283009.1:c.2887C>T (RTEL1)	NP_001269938.1:p.Gln963Ter
NM_001283010.1:c.2218C>T (RTEL1)	NP_001269939.1:p.Gln740Ter
NM_016434.3:c.2887C>T (RTEL1)	NP_057518.1:p.Gln963Ter
NM_016434.4:c.2887C>T (RTEL1)	NP_057518.1:p.Gln963Ter
NM_032957.4:c.2959C>T (RTEL1)	NP_116575.3:p.Gln987Ter
NM_032957.5:c.2959C>T (RTEL1)	NP_116575.3:p.Gln987Ter
NR_037882.1:n.3714C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2218C>T (RTEL1)	ENSP00000322287.5:p.Gln740Ter
ENST00000318100.9:c.2218C>T (RTEL1)	ENSP00000322287.5:p.Gln740Ter
ENST00000360203.9:c.2887C>T (RTEL1)	ENSP00000353332.5:p.Gln963Ter
ENST00000370003.2:c.622C>T (RTEL1)	ENSP00000359020.1:p.Gln208Ter
ENST00000370018.7:c.2887C>T (RTEL1)	ENSP00000359035.3:p.Gln963Ter
ENST00000480273.5:n.2972C>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2887C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Gln963Ter
ENST00000482936.6:c.2887C>T (RTEL1)	ENSP00000457868.2:p.Gln963Ter
ENST00000492259.6:c.*489C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*489C>T
ENST00000496281.1:n.2369C>T (RTEL1-TNFRSF6B)
ENST00000496281.2:n.2898C>T (RTEL1-TNFRSF6B)
ENST00000496816.5:c.766C>T (RTEL1)	ENSP00000425576.1:p.Gln256Ter
ENST00000508582.6:c.2959C>T (RTEL1)	ENSP00000424307.2:p.Gln987Ter
ENST00000508582.7:c.2959C>T (RTEL1)	ENSP00000424307.2:p.Gln987Ter
ENST00000697815.1:n.1634C>T (RTEL1-TNFRSF6B)