Canonical Allele Identifier: CA2374935288
Community Standard Title: NM_001283009.2(RTEL1):c.3175G= (p.Ala1059=)
Gene: RTEL1-TNFRSF6B HGNC NCBI
RTEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63694806G= , CM000682.2:g.63694806G= GRCh38
NC_000020.10:g.62326159G= , CM000682.1:g.62326159G= GRCh37
NC_000020.9:g.61796603G= NCBI36
NG_033901.1:g.41997G=
NG_046961.1:g.3156G=

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.3175G= (RTEL1) MANE Select NP_001269938.1:p.Ala1059=
ENST00000360203.11:c.3175G= (RTEL1) MANE Select ENSP00000353332.5:p.Ala1059=
NM_001283009.1:c.3175G= (RTEL1) NP_001269938.1:p.Ala1059=
NM_001283010.1:c.2506G= (RTEL1) NP_001269939.1:p.Ala836=
NM_016434.3:c.3175G= (RTEL1) NP_057518.1:p.Ala1059=
NM_016434.4:c.3175G= (RTEL1) NP_057518.1:p.Ala1059=
NM_032957.4:c.3247G= (RTEL1) NP_116575.3:p.Ala1083=
NM_032957.5:c.3247G= (RTEL1) NP_116575.3:p.Ala1083=
NR_037882.1:n.4002G= (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2506G= (RTEL1) ENSP00000322287.5:p.Ala836=
ENST00000318100.9:c.2506G= (RTEL1) ENSP00000322287.5:p.Ala836=
ENST00000360203.9:c.3175G= (RTEL1) ENSP00000353332.5:p.Ala1059=
ENST00000370003.2:c.910G= (RTEL1) ENSP00000359020.1:p.Ala304=
ENST00000370018.7:c.3175G= (RTEL1) ENSP00000359035.3:p.Ala1059=
ENST00000480273.5:n.3260G= (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3175G= (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Ala1059=
ENST00000492259.6:c.*777G= (RTEL1-TNFRSF6B) ENSP00000457428.1:n.*777G=
ENST00000496281.1:n.2657G= (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3186G= (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1107G= (RTEL1) ENSP00000425576.1:n.1107G=
ENST00000508582.6:c.3247G= (RTEL1) ENSP00000424307.2:p.Ala1083=
ENST00000508582.7:c.3247G= (RTEL1) ENSP00000424307.2:p.Ala1083=
ENST00000697815.1:n.1922G= (RTEL1-TNFRSF6B)