Canonical Allele Identifier: CA2374933221
Community Standard Title: NM_001283009.2(RTEL1):c.2957G= (p.Arg986=)
Gene: RTEL1-TNFRSF6B HGNC NCBI
RTEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63693248G= , CM000682.2:g.63693248G= GRCh38
NC_000020.10:g.62324601G= , CM000682.1:g.62324601G= GRCh37
NC_000020.9:g.61795045G= NCBI36
NG_033901.1:g.40439G=
NG_046961.1:g.1598G=

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.2957G= (RTEL1) MANE Select NP_001269938.1:p.Arg986=
ENST00000360203.11:c.2957G= (RTEL1) MANE Select ENSP00000353332.5:p.Arg986=
NM_001283009.1:c.2957G= (RTEL1) NP_001269938.1:p.Arg986=
NM_001283010.1:c.2288G= (RTEL1) NP_001269939.1:p.Arg763=
NM_016434.3:c.2957G= (RTEL1) NP_057518.1:p.Arg986=
NM_016434.4:c.2957G= (RTEL1) NP_057518.1:p.Arg986=
NM_032957.4:c.3029G= (RTEL1) NP_116575.3:p.Arg1010=
NM_032957.5:c.3029G= (RTEL1) NP_116575.3:p.Arg1010=
NR_037882.1:n.3784G= (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2288G= (RTEL1) ENSP00000322287.5:p.Arg763=
ENST00000318100.9:c.2288G= (RTEL1) ENSP00000322287.5:p.Arg763=
ENST00000360203.9:c.2957G= (RTEL1) ENSP00000353332.5:p.Arg986=
ENST00000370003.2:c.692G= (RTEL1) ENSP00000359020.1:p.Arg231=
ENST00000370018.7:c.2957G= (RTEL1) ENSP00000359035.3:p.Arg986=
ENST00000480273.5:n.3042G= (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2957G= (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Arg986=
ENST00000482936.6:c.2957G= (RTEL1) ENSP00000457868.2:p.Arg986=
ENST00000492259.6:c.*559G= (RTEL1-TNFRSF6B) ENSP00000457428.1:n.*559G=
ENST00000496281.1:n.2439G= (RTEL1-TNFRSF6B)
ENST00000496281.2:n.2968G= (RTEL1-TNFRSF6B)
ENST00000496816.5:c.836G= (RTEL1) ENSP00000425576.1:p.Arg279=
ENST00000508582.6:c.3029G= (RTEL1) ENSP00000424307.2:p.Arg1010=
ENST00000508582.7:c.3029G= (RTEL1) ENSP00000424307.2:p.Arg1010=
ENST00000697815.1:n.1704G= (RTEL1-TNFRSF6B)