Canonical Allele Identifier: CA409677572

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63688312C>A , CM000682.2:g.63688312C>A	GRCh38
NC_000020.10:g.62319665C>A , CM000682.1:g.62319665C>A	GRCh37
NC_000020.9:g.61790109C>A	NCBI36
NG_033901.1:g.35503C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.1648C>A (RTEL1) MANE Select	NP_001269938.1:p.Arg550Ser
ENST00000360203.11:c.1648C>A (RTEL1) MANE Select	ENSP00000353332.5:p.Arg550Ser
NM_001283009.1:c.1648C>A (RTEL1)	NP_001269938.1:p.Arg550Ser
NM_001283010.1:c.979C>A (RTEL1)	NP_001269939.1:p.Arg327Ser
NM_016434.3:c.1648C>A (RTEL1)	NP_057518.1:p.Arg550Ser
NM_016434.4:c.1648C>A (RTEL1)	NP_057518.1:p.Arg550Ser
NM_032957.4:c.1720C>A (RTEL1)	NP_116575.3:p.Arg574Ser
NM_032957.5:c.1720C>A (RTEL1)	NP_116575.3:p.Arg574Ser
NR_037882.1:n.2475C>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.979C>A (RTEL1)	ENSP00000322287.5:p.Arg327Ser
ENST00000318100.9:c.979C>A (RTEL1)	ENSP00000322287.5:p.Arg327Ser
ENST00000360203.9:c.1648C>A (RTEL1)	ENSP00000353332.5:p.Arg550Ser
ENST00000370018.7:c.1648C>A (RTEL1)	ENSP00000359035.3:p.Arg550Ser
ENST00000425905.6:c.1322C>A (RTEL1)
ENST00000425905.7:n.1322C>A (RTEL1)
ENST00000480273.5:n.1733C>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.1648C>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Arg550Ser
ENST00000482936.6:c.1648C>A (RTEL1)	ENSP00000457868.2:p.Arg550Ser
ENST00000492259.6:c.1732C>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Arg578Ser
ENST00000496281.2:n.22C>A (RTEL1-TNFRSF6B)
ENST00000508582.6:c.1720C>A (RTEL1)	ENSP00000424307.2:p.Arg574Ser
ENST00000508582.7:c.1720C>A (RTEL1)	ENSP00000424307.2:p.Arg574Ser
ENST00000687123.1:n.1478C>A (RTEL1)