Canonical Allele Identifier: CA2374920828
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63672619G= , CM000682.2:g.63672619G= GRCh38
NC_000020.10:g.62303972G= , CM000682.1:g.62303972G= GRCh37
NC_000020.9:g.61774416G= NCBI36
NG_033901.1:g.19810G=

Transcript Alleles

HGVS Amino-acid change
ENST00000425905.7:n.437G= (RTEL1)
ENST00000425905.6:c.437G= (RTEL1)
ENST00000508582.7:c.835G= (RTEL1) ENSP00000424307.2:p.Val279=
ENST00000684971.1:n.1194G= (RTEL1)
ENST00000686756.1:n.1081G= (RTEL1)
ENST00000687123.1:n.593G= (RTEL1)
ENST00000692658.1:n.1201G= (RTEL1)
ENST00000692911.1:n.1490G= (RTEL1)
ENST00000318100.9:c.94G= (RTEL1) ENSP00000322287.5:p.Val32=
ENST00000360203.11:c.763G= (RTEL1) MANE Select ENSP00000353332.5:p.Val255=
ENST00000482936.6:c.763G= (RTEL1) ENSP00000457868.2:p.Val255=
ENST00000318100.8:c.94G= (RTEL1) ENSP00000322287.5:p.Val32=
ENST00000356810.5:c.913G= (RTEL1) ENSP00000349265.4:p.Val305=
ENST00000360203.9:c.763G= (RTEL1) ENSP00000353332.5:p.Val255=
ENST00000370018.7:c.763G= (RTEL1) ENSP00000359035.3:p.Val255=
ENST00000463361.1:n.460G= (RTEL1)
ENST00000482936.5:c.763G= (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Val255=
ENST00000492259.6:c.763G= (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Val255=
ENST00000508582.6:c.835G= (RTEL1) ENSP00000424307.2:p.Val279=
NM_001283009.1:c.763G= (RTEL1) NP_001269938.1:p.Val255=
NM_001283010.1:c.94G= (RTEL1) NP_001269939.1:p.Val32=
NM_016434.3:c.763G= (RTEL1) NP_057518.1:p.Val255=
NM_032957.4:c.835G= (RTEL1) NP_116575.3:p.Val279=
NR_037882.1:n.1590G= (RTEL1-TNFRSF6B)
NM_001283009.2:c.763G= (RTEL1) MANE Select NP_001269938.1:p.Val255=
NM_016434.4:c.763G= (RTEL1) NP_057518.1:p.Val255=
NM_032957.5:c.835G= (RTEL1) NP_116575.3:p.Val279=