Canonical Allele Identifier: CA9964419
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Linked Data

ClinVar Variation Id: 1019137
dbSNP Id: rs375403784

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63672572A>G , CM000682.2:g.63672572A>G GRCh38
NC_000020.10:g.62303925A>G , CM000682.1:g.62303925A>G GRCh37
NC_000020.9:g.61774369A>G NCBI36
NG_033901.1:g.19763A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000425905.7:n.390A>G (RTEL1)
ENST00000425905.6:c.390A>G (RTEL1)
ENST00000508582.7:c.788A>G (RTEL1) ENSP00000424307.2:p.Asn263Ser
ENST00000684971.1:n.1147A>G (RTEL1)
ENST00000686756.1:n.1034A>G (RTEL1)
ENST00000687123.1:n.546A>G (RTEL1)
ENST00000692658.1:n.1154A>G (RTEL1)
ENST00000692911.1:n.1443A>G (RTEL1)
ENST00000318100.9:c.47A>G (RTEL1) ENSP00000322287.5:p.Asn16Ser
ENST00000360203.11:c.716A>G (RTEL1) MANE Select ENSP00000353332.5:p.Asn239Ser
ENST00000482936.6:c.716A>G (RTEL1) ENSP00000457868.2:p.Asn239Ser
ENST00000318100.8:c.47A>G (RTEL1) ENSP00000322287.5:p.Asn16Ser
ENST00000356810.5:c.866A>G (RTEL1) ENSP00000349265.4:p.Asn289Ser
ENST00000360203.9:c.716A>G (RTEL1) ENSP00000353332.5:p.Asn239Ser
ENST00000370018.7:c.716A>G (RTEL1) ENSP00000359035.3:p.Asn239Ser
ENST00000463361.1:n.413A>G (RTEL1)
ENST00000482936.5:c.716A>G (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Asn239Ser
ENST00000492259.6:c.716A>G (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Asn239Ser
ENST00000508582.6:c.788A>G (RTEL1) ENSP00000424307.2:p.Asn263Ser
NM_001283009.1:c.716A>G (RTEL1) NP_001269938.1:p.Asn239Ser
NM_001283010.1:c.47A>G (RTEL1) NP_001269939.1:p.Asn16Ser
NM_016434.3:c.716A>G (RTEL1) NP_057518.1:p.Asn239Ser
NM_032957.4:c.788A>G (RTEL1) NP_116575.3:p.Asn263Ser
NR_037882.1:n.1543A>G (RTEL1-TNFRSF6B)
NM_001283009.2:c.716A>G (RTEL1) MANE Select NP_001269938.1:p.Asn239Ser
NM_016434.4:c.716A>G (RTEL1) NP_057518.1:p.Asn239Ser
NM_032957.5:c.788A>G (RTEL1) NP_116575.3:p.Asn263Ser