Canonical Allele Identifier: CA409669769

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63662625C>T , CM000682.2:g.63662625C>T	GRCh38
NC_000020.10:g.62293978C>T , CM000682.1:g.62293978C>T	GRCh37
NC_000020.9:g.61764422C>T	NCBI36
NG_033901.1:g.9816C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.475C>T (RTEL1) MANE Select	NP_001269938.1:p.Gln159Ter
ENST00000360203.11:c.475C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Gln159Ter
NM_001283009.1:c.475C>T (RTEL1)	NP_001269938.1:p.Gln159Ter
NM_001283010.1:c.-195C>T (RTEL1)	NP_001269939.1:n.-195C>T
NM_016434.3:c.475C>T (RTEL1)	NP_057518.1:p.Gln159Ter
NM_016434.4:c.475C>T (RTEL1)	NP_057518.1:p.Gln159Ter
NM_032957.4:c.547C>T (RTEL1)	NP_116575.3:p.Gln183Ter
NM_032957.5:c.547C>T (RTEL1)	NP_116575.3:p.Gln183Ter
NR_037882.1:n.1302C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-195C>T (RTEL1)	ENSP00000322287.5:n.-195C>T
ENST00000318100.9:c.-195C>T (RTEL1)	ENSP00000322287.5:n.-195C>T
ENST00000356810.5:c.625C>T (RTEL1)	ENSP00000349265.4:p.Gln209Ter
ENST00000360203.9:c.475C>T (RTEL1)	ENSP00000353332.5:p.Gln159Ter
ENST00000370018.7:c.475C>T (RTEL1)	ENSP00000359035.3:p.Gln159Ter
ENST00000425905.6:c.149C>T (RTEL1)
ENST00000425905.7:n.149C>T (RTEL1)
ENST00000482936.5:c.475C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Gln159Ter
ENST00000482936.6:c.475C>T (RTEL1)	ENSP00000457868.2:p.Gln159Ter
ENST00000492259.6:c.475C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Gln159Ter
ENST00000508582.6:c.547C>T (RTEL1)	ENSP00000424307.2:p.Gln183Ter
ENST00000508582.7:c.547C>T (RTEL1)	ENSP00000424307.2:p.Gln183Ter
ENST00000645309.1:n.172C>T (RTEL1)
ENST00000684971.1:n.906C>T (RTEL1)
ENST00000686756.1:n.793C>T (RTEL1)
ENST00000687123.1:n.305C>T (RTEL1)
ENST00000692658.1:n.913C>T (RTEL1)
ENST00000692911.1:n.1202C>T (RTEL1)