Canonical Allele Identifier: CA2374930690
Community Standard Title: NM_001283009.2(RTEL1):c.1992T= (p.Asp664=)
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63689615T= , CM000682.2:g.63689615T= GRCh38
NC_000020.10:g.62320968T= , CM000682.1:g.62320968T= GRCh37
NC_000020.9:g.61791412T= NCBI36
NG_033901.1:g.36806T=

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.1992T= (RTEL1) MANE Select NP_001269938.1:p.Asp664=
ENST00000360203.11:c.1992T= (RTEL1) MANE Select ENSP00000353332.5:p.Asp664=
NM_001283009.1:c.1992T= (RTEL1) NP_001269938.1:p.Asp664=
NM_001283010.1:c.1323T= (RTEL1) NP_001269939.1:p.Asp441=
NM_016434.3:c.1992T= (RTEL1) NP_057518.1:p.Asp664=
NM_016434.4:c.1992T= (RTEL1) NP_057518.1:p.Asp664=
NM_032957.4:c.2064T= (RTEL1) NP_116575.3:p.Asp688=
NM_032957.5:c.2064T= (RTEL1) NP_116575.3:p.Asp688=
NR_037882.1:n.2819T= (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1323T= (RTEL1) ENSP00000322287.5:p.Asp441=
ENST00000318100.9:c.1323T= (RTEL1) ENSP00000322287.5:p.Asp441=
ENST00000360203.9:c.1992T= (RTEL1) ENSP00000353332.5:p.Asp664=
ENST00000370018.7:c.1992T= (RTEL1) ENSP00000359035.3:p.Asp664=
ENST00000425905.5:c.205-135T= (RTEL1) ENSP00000388063.1:n.205-135T=
ENST00000425905.6:c.1553-135T= (RTEL1)
ENST00000425905.7:n.1553-135T= (RTEL1)
ENST00000480273.5:n.2077T= (RTEL1-TNFRSF6B)
ENST00000482936.5:c.1992T= (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Asp664=
ENST00000482936.6:c.1992T= (RTEL1) ENSP00000457868.2:p.Asp664=
ENST00000492259.6:c.2076T= (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Asp692=
ENST00000496281.1:n.286T= (RTEL1-TNFRSF6B)
ENST00000496281.2:n.815T= (RTEL1-TNFRSF6B)
ENST00000508582.6:c.2064T= (RTEL1) ENSP00000424307.2:p.Asp688=
ENST00000508582.7:c.2064T= (RTEL1) ENSP00000424307.2:p.Asp688=
ENST00000687123.1:n.1709-135T= (RTEL1)
ENST00000697814.1:n.182T= (RTEL1)