Canonical Allele Identifier: CA409683096

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63692973G>T , CM000682.2:g.63692973G>T	GRCh38
NC_000020.10:g.62324326G>T , CM000682.1:g.62324326G>T	GRCh37
NC_000020.9:g.61794770G>T	NCBI36
NG_033901.1:g.40164G>T
NG_046961.1:g.1323G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2821G>T (RTEL1) MANE Select	NP_001269938.1:p.Glu941Ter
ENST00000360203.11:c.2821G>T (RTEL1) MANE Select	ENSP00000353332.5:p.Glu941Ter
NM_001283009.1:c.2821G>T (RTEL1)	NP_001269938.1:p.Glu941Ter
NM_001283010.1:c.2152G>T (RTEL1)	NP_001269939.1:p.Glu718Ter
NM_016434.3:c.2821G>T (RTEL1)	NP_057518.1:p.Glu941Ter
NM_016434.4:c.2821G>T (RTEL1)	NP_057518.1:p.Glu941Ter
NM_032957.4:c.2893G>T (RTEL1)	NP_116575.3:p.Glu965Ter
NM_032957.5:c.2893G>T (RTEL1)	NP_116575.3:p.Glu965Ter
NR_037882.1:n.3648G>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2152G>T (RTEL1)	ENSP00000322287.5:p.Glu718Ter
ENST00000318100.9:c.2152G>T (RTEL1)	ENSP00000322287.5:p.Glu718Ter
ENST00000360203.9:c.2821G>T (RTEL1)	ENSP00000353332.5:p.Glu941Ter
ENST00000370003.2:c.556G>T (RTEL1)	ENSP00000359020.1:p.Glu186Ter
ENST00000370018.7:c.2821G>T (RTEL1)	ENSP00000359035.3:p.Glu941Ter
ENST00000480273.5:n.2906G>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2821G>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Glu941Ter
ENST00000482936.6:c.2821G>T (RTEL1)	ENSP00000457868.2:p.Glu941Ter
ENST00000492259.6:c.*423G>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*423G>T
ENST00000496281.1:n.2303G>T (RTEL1-TNFRSF6B)
ENST00000496281.2:n.2832G>T (RTEL1-TNFRSF6B)
ENST00000496816.5:c.700G>T (RTEL1)	ENSP00000425576.1:p.Glu234Ter
ENST00000508582.6:c.2893G>T (RTEL1)	ENSP00000424307.2:p.Glu965Ter
ENST00000508582.7:c.2893G>T (RTEL1)	ENSP00000424307.2:p.Glu965Ter
ENST00000697815.1:n.1568G>T (RTEL1-TNFRSF6B)