Canonical Allele Identifier: CA130945
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Linked Data

ClinVar Variation Id: 42017
dbSNP Id: rs398123016

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63690161G>T , CM000682.2:g.63690161G>T GRCh38
NC_000020.10:g.62321514G>T , CM000682.1:g.62321514G>T GRCh37
NC_000020.9:g.61791958G>T NCBI36
NG_033901.1:g.37352G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000425905.7:n.1743G>T (RTEL1)
ENST00000425905.6:c.1743G>T (RTEL1)
ENST00000697815.1:n.175G>T (RTEL1-TNFRSF6B)
ENST00000508582.7:c.2288G>T (RTEL1) ENSP00000424307.2:p.Gly763Val
ENST00000687123.1:n.1842G>T (RTEL1)
ENST00000318100.9:c.1547G>T (RTEL1) ENSP00000322287.5:p.Gly516Val
ENST00000360203.11:c.2216G>T (RTEL1) MANE Select ENSP00000353332.5:p.Gly739Val
ENST00000482936.6:c.2216G>T (RTEL1) ENSP00000457868.2:p.Gly739Val
ENST00000496281.2:n.1260G>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1547G>T (RTEL1) ENSP00000322287.5:p.Gly516Val
ENST00000360203.9:c.2216G>T (RTEL1) ENSP00000353332.5:p.Gly739Val
ENST00000370003.2:c.-50G>T (RTEL1) ENSP00000359020.1:n.-50G>T
ENST00000370018.7:c.2216G>T (RTEL1) ENSP00000359035.3:p.Gly739Val
ENST00000425905.5:c.395G>T (RTEL1) ENSP00000388063.1:p.Gly132Val
ENST00000480273.5:n.2301G>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2216G>T (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Gly739Val
ENST00000492259.6:c.2226-133G>T (RTEL1-TNFRSF6B) ENSP00000457428.1:n.2226-133G>T
ENST00000496281.1:n.731G>T (RTEL1-TNFRSF6B)
ENST00000496816.5:c.95G>T (RTEL1) ENSP00000425576.1:p.Gly32Val
ENST00000508582.6:c.2288G>T (RTEL1) ENSP00000424307.2:p.Gly763Val
NM_001283009.1:c.2216G>T (RTEL1) NP_001269938.1:p.Gly739Val
NM_001283010.1:c.1547G>T (RTEL1) NP_001269939.1:p.Gly516Val
NM_016434.3:c.2216G>T (RTEL1) NP_057518.1:p.Gly739Val
NM_032957.4:c.2288G>T (RTEL1) NP_116575.3:p.Gly763Val
NR_037882.1:n.3043G>T (RTEL1-TNFRSF6B)
NM_001283009.2:c.2216G>T (RTEL1) MANE Select NP_001269938.1:p.Gly739Val
NM_016434.4:c.2216G>T (RTEL1) NP_057518.1:p.Gly739Val
NM_032957.5:c.2288G>T (RTEL1) NP_116575.3:p.Gly763Val