Canonical Allele Identifier: CA9965677

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63693257G>A , CM000682.2:g.63693257G>A	GRCh38
NC_000020.10:g.62324610G>A , CM000682.1:g.62324610G>A	GRCh37
NC_000020.9:g.61795054G>A	NCBI36
NG_033901.1:g.40448G>A
NG_046961.1:g.1607G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2966G>A (RTEL1) MANE Select	NP_001269938.1:p.Arg989Gln
ENST00000360203.11:c.2966G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Arg989Gln
NM_001283009.1:c.2966G>A (RTEL1)	NP_001269938.1:p.Arg989Gln
NM_001283010.1:c.2297G>A (RTEL1)	NP_001269939.1:p.Arg766Gln
NM_016434.3:c.2966G>A (RTEL1)	NP_057518.1:p.Arg989Gln
NM_016434.4:c.2966G>A (RTEL1)	NP_057518.1:p.Arg989Gln
NM_032957.4:c.3038G>A (RTEL1)	NP_116575.3:p.Arg1013Gln
NM_032957.5:c.3038G>A (RTEL1)	NP_116575.3:p.Arg1013Gln
NR_037882.1:n.3793G>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2297G>A (RTEL1)	ENSP00000322287.5:p.Arg766Gln
ENST00000318100.9:c.2297G>A (RTEL1)	ENSP00000322287.5:p.Arg766Gln
ENST00000360203.9:c.2966G>A (RTEL1)	ENSP00000353332.5:p.Arg989Gln
ENST00000370003.2:c.701G>A (RTEL1)	ENSP00000359020.1:p.Arg234Gln
ENST00000370018.7:c.2966G>A (RTEL1)	ENSP00000359035.3:p.Arg989Gln
ENST00000480273.5:n.3051G>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2966G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Arg989Gln
ENST00000482936.6:c.2966G>A (RTEL1)	ENSP00000457868.2:p.Arg989Gln
ENST00000492259.6:c.*568G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*568G>A
ENST00000496281.1:n.2448G>A (RTEL1-TNFRSF6B)
ENST00000496281.2:n.2977G>A (RTEL1-TNFRSF6B)
ENST00000496816.5:c.845G>A (RTEL1)	ENSP00000425576.1:p.Arg282Gln
ENST00000508582.6:c.3038G>A (RTEL1)	ENSP00000424307.2:p.Arg1013Gln
ENST00000508582.7:c.3038G>A (RTEL1)	ENSP00000424307.2:p.Arg1013Gln
ENST00000697815.1:n.1713G>A (RTEL1-TNFRSF6B)