Canonical Allele Identifier: CA9965653

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63693206C>T , CM000682.2:g.63693206C>T	GRCh38
NC_000020.10:g.62324559C>T , CM000682.1:g.62324559C>T	GRCh37
NC_000020.9:g.61795003C>T	NCBI36
NG_033901.1:g.40397C>T
NG_046961.1:g.1556C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2915C>T (RTEL1) MANE Select	NP_001269938.1:p.Thr972Ile
ENST00000360203.11:c.2915C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Thr972Ile
NM_001283009.1:c.2915C>T (RTEL1)	NP_001269938.1:p.Thr972Ile
NM_001283010.1:c.2246C>T (RTEL1)	NP_001269939.1:p.Thr749Ile
NM_016434.3:c.2915C>T (RTEL1)	NP_057518.1:p.Thr972Ile
NM_016434.4:c.2915C>T (RTEL1)	NP_057518.1:p.Thr972Ile
NM_032957.4:c.2987C>T (RTEL1)	NP_116575.3:p.Thr996Ile
NM_032957.5:c.2987C>T (RTEL1)	NP_116575.3:p.Thr996Ile
NR_037882.1:n.3742C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2246C>T (RTEL1)	ENSP00000322287.5:p.Thr749Ile
ENST00000318100.9:c.2246C>T (RTEL1)	ENSP00000322287.5:p.Thr749Ile
ENST00000360203.9:c.2915C>T (RTEL1)	ENSP00000353332.5:p.Thr972Ile
ENST00000370003.2:c.650C>T (RTEL1)	ENSP00000359020.1:p.Thr217Ile
ENST00000370018.7:c.2915C>T (RTEL1)	ENSP00000359035.3:p.Thr972Ile
ENST00000480273.5:n.3000C>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2915C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Thr972Ile
ENST00000482936.6:c.2915C>T (RTEL1)	ENSP00000457868.2:p.Thr972Ile
ENST00000492259.6:c.*517C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*517C>T
ENST00000496281.1:n.2397C>T (RTEL1-TNFRSF6B)
ENST00000496281.2:n.2926C>T (RTEL1-TNFRSF6B)
ENST00000496816.5:c.794C>T (RTEL1)	ENSP00000425576.1:p.Thr265Ile
ENST00000508582.6:c.2987C>T (RTEL1)	ENSP00000424307.2:p.Thr996Ile
ENST00000508582.7:c.2987C>T (RTEL1)	ENSP00000424307.2:p.Thr996Ile
ENST00000697815.1:n.1662C>T (RTEL1-TNFRSF6B)