Canonical Allele Identifier: CA9964464

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63674034C>T , CM000682.2:g.63674034C>T	GRCh38
NC_000020.10:g.62305387C>T , CM000682.1:g.62305387C>T	GRCh37
NC_000020.9:g.61775831C>T	NCBI36
NG_033901.1:g.21225C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.860C>T (RTEL1) MANE Select	NP_001269938.1:p.Thr287Ile
ENST00000360203.11:c.860C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Thr287Ile
NM_001283009.1:c.860C>T (RTEL1)	NP_001269938.1:p.Thr287Ile
NM_001283010.1:c.191C>T (RTEL1)	NP_001269939.1:p.Thr64Ile
NM_016434.3:c.860C>T (RTEL1)	NP_057518.1:p.Thr287Ile
NM_016434.4:c.860C>T (RTEL1)	NP_057518.1:p.Thr287Ile
NM_032957.4:c.932C>T (RTEL1)	NP_116575.3:p.Thr311Ile
NM_032957.5:c.932C>T (RTEL1)	NP_116575.3:p.Thr311Ile
NR_037882.1:n.1687C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.191C>T (RTEL1)	ENSP00000322287.5:p.Thr64Ile
ENST00000318100.9:c.191C>T (RTEL1)	ENSP00000322287.5:p.Thr64Ile
ENST00000356810.5:c.1010C>T (RTEL1)	ENSP00000349265.4:p.Thr337Ile
ENST00000360203.9:c.860C>T (RTEL1)	ENSP00000353332.5:p.Thr287Ile
ENST00000370018.7:c.860C>T (RTEL1)	ENSP00000359035.3:p.Thr287Ile
ENST00000425905.6:c.534C>T (RTEL1)
ENST00000425905.7:n.534C>T (RTEL1)
ENST00000463361.1:n.557C>T (RTEL1)
ENST00000482936.5:c.860C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Thr287Ile
ENST00000482936.6:c.860C>T (RTEL1)	ENSP00000457868.2:p.Thr287Ile
ENST00000492259.6:c.860C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Thr287Ile
ENST00000508582.6:c.932C>T (RTEL1)	ENSP00000424307.2:p.Thr311Ile
ENST00000508582.7:c.932C>T (RTEL1)	ENSP00000424307.2:p.Thr311Ile
ENST00000684971.1:n.1291C>T (RTEL1)
ENST00000686756.1:n.1178C>T (RTEL1)
ENST00000687123.1:n.690C>T (RTEL1)
ENST00000692658.1:n.1298C>T (RTEL1)
ENST00000692911.1:n.1587C>T (RTEL1)