Canonical Allele Identifier: CA9965161

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63689813C>T , CM000682.2:g.63689813C>T	GRCh38
NC_000020.10:g.62321166C>T , CM000682.1:g.62321166C>T	GRCh37
NC_000020.9:g.61791610C>T	NCBI36
NG_033901.1:g.37004C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2089C>T (RTEL1) MANE Select	NP_001269938.1:p.Arg697Ter
ENST00000360203.11:c.2089C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Arg697Ter
NM_001283009.1:c.2089C>T (RTEL1)	NP_001269938.1:p.Arg697Ter
NM_001283010.1:c.1420C>T (RTEL1)	NP_001269939.1:p.Arg474Ter
NM_016434.3:c.2089C>T (RTEL1)	NP_057518.1:p.Arg697Ter
NM_016434.4:c.2089C>T (RTEL1)	NP_057518.1:p.Arg697Ter
NM_032957.4:c.2161C>T (RTEL1)	NP_116575.3:p.Arg721Ter
NM_032957.5:c.2161C>T (RTEL1)	NP_116575.3:p.Arg721Ter
NR_037882.1:n.2916C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1420C>T (RTEL1)	ENSP00000322287.5:p.Arg474Ter
ENST00000318100.9:c.1420C>T (RTEL1)	ENSP00000322287.5:p.Arg474Ter
ENST00000360203.9:c.2089C>T (RTEL1)	ENSP00000353332.5:p.Arg697Ter
ENST00000370018.7:c.2089C>T (RTEL1)	ENSP00000359035.3:p.Arg697Ter
ENST00000425905.5:c.268C>T (RTEL1)	ENSP00000388063.1:p.Arg90Ter
ENST00000425905.6:c.1616C>T (RTEL1)
ENST00000425905.7:n.1616C>T (RTEL1)
ENST00000480273.5:n.2174C>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2089C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Arg697Ter
ENST00000482936.6:c.2089C>T (RTEL1)	ENSP00000457868.2:p.Arg697Ter
ENST00000492259.6:c.2173C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Arg725Ter
ENST00000496281.1:n.383C>T (RTEL1-TNFRSF6B)
ENST00000496281.2:n.912C>T (RTEL1-TNFRSF6B)
ENST00000508582.6:c.2161C>T (RTEL1)	ENSP00000424307.2:p.Arg721Ter
ENST00000508582.7:c.2161C>T (RTEL1)	ENSP00000424307.2:p.Arg721Ter
ENST00000687123.1:n.1772C>T (RTEL1)
ENST00000697814.1:n.279C>T (RTEL1)
ENST00000697815.1:n.48C>T (RTEL1-TNFRSF6B)