Canonical Allele Identifier: CA409684981

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63694848T>G , CM000682.2:g.63694848T>G	GRCh38
NC_000020.10:g.62326201T>G , CM000682.1:g.62326201T>G	GRCh37
NC_000020.9:g.61796645T>G	NCBI36
NG_033901.1:g.42039T>G
NG_046961.1:g.3198T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.3217T>G (RTEL1) MANE Select	NP_001269938.1:p.Ser1073Ala
ENST00000360203.11:c.3217T>G (RTEL1) MANE Select	ENSP00000353332.5:p.Ser1073Ala
NM_001283009.1:c.3217T>G (RTEL1)	NP_001269938.1:p.Ser1073Ala
NM_001283010.1:c.2548T>G (RTEL1)	NP_001269939.1:p.Ser850Ala
NM_016434.3:c.3217T>G (RTEL1)	NP_057518.1:p.Ser1073Ala
NM_016434.4:c.3217T>G (RTEL1)	NP_057518.1:p.Ser1073Ala
NM_032957.4:c.3289T>G (RTEL1)	NP_116575.3:p.Ser1097Ala
NM_032957.5:c.3289T>G (RTEL1)	NP_116575.3:p.Ser1097Ala
NR_037882.1:n.4044T>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2548T>G (RTEL1)	ENSP00000322287.5:p.Ser850Ala
ENST00000318100.9:c.2548T>G (RTEL1)	ENSP00000322287.5:p.Ser850Ala
ENST00000360203.9:c.3217T>G (RTEL1)	ENSP00000353332.5:p.Ser1073Ala
ENST00000370003.2:c.952T>G (RTEL1)	ENSP00000359020.1:p.Ser318Ala
ENST00000370018.7:c.3217T>G (RTEL1)	ENSP00000359035.3:p.Ser1073Ala
ENST00000480273.5:n.3302T>G (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3217T>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ser1073Ala
ENST00000492259.6:c.*819T>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*819T>G
ENST00000496281.1:n.2699T>G (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3228T>G (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1149T>G (RTEL1)	ENSP00000425576.1:n.1149T>G
ENST00000508582.6:c.3289T>G (RTEL1)	ENSP00000424307.2:p.Ser1097Ala
ENST00000508582.7:c.3289T>G (RTEL1)	ENSP00000424307.2:p.Ser1097Ala
ENST00000697815.1:n.1964T>G (RTEL1-TNFRSF6B)