Canonical Allele Identifier: CA409657798
Gene: RTEL1 HGNC NCBI
RTEL1-TNFRSF6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63661341C>G , CM000682.2:g.63661341C>G GRCh38
NC_000020.10:g.62292694C>G , CM000682.1:g.62292694C>G GRCh37
NC_000020.9:g.61763138C>G NCBI36
NG_033901.1:g.8532C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488316.2:n.416C>G (RTEL1)
ENST00000508582.7:c.146C>G (RTEL1) ENSP00000424307.2:p.Thr49Arg
ENST00000684971.1:n.471C>G (RTEL1)
ENST00000686756.1:n.464C>G (RTEL1)
ENST00000692658.1:n.478C>G (RTEL1)
ENST00000692911.1:n.873C>G (RTEL1)
ENST00000318100.9:c.-524C>G (RTEL1) ENSP00000322287.5:n.-524C>G
ENST00000360203.11:c.146C>G (RTEL1) MANE Select ENSP00000353332.5:p.Thr49Arg
ENST00000482936.6:c.146C>G (RTEL1) ENSP00000457868.2:p.Thr49Arg
ENST00000646389.1:c.146C>G (RTEL1) ENSP00000494280.1:p.Thr49Arg
ENST00000318100.8:c.-524C>G (RTEL1) ENSP00000322287.5:n.-524C>G
ENST00000356810.5:c.146C>G (RTEL1) ENSP00000349265.4:p.Thr49Arg
ENST00000360203.9:c.146C>G (RTEL1) ENSP00000353332.5:p.Thr49Arg
ENST00000370018.7:c.146C>G (RTEL1) ENSP00000359035.3:p.Thr49Arg
ENST00000482936.5:c.146C>G (RTEL1-TNFRSF6B) ENSP00000457868.1:p.Thr49Arg
ENST00000488316.1:n.400C>G (RTEL1)
ENST00000492259.6:c.146C>G (RTEL1-TNFRSF6B) ENSP00000457428.1:p.Thr49Arg
ENST00000508582.6:c.146C>G (RTEL1) ENSP00000424307.2:p.Thr49Arg
NM_001283009.1:c.146C>G (RTEL1) NP_001269938.1:p.Thr49Arg
NM_001283010.1:c.-524C>G (RTEL1) NP_001269939.1:n.-524C>G
NM_016434.3:c.146C>G (RTEL1) NP_057518.1:p.Thr49Arg
NM_032957.4:c.146C>G (RTEL1) NP_116575.3:p.Thr49Arg
NR_037882.1:n.973C>G (RTEL1-TNFRSF6B)
NM_001283009.2:c.146C>G (RTEL1) MANE Select NP_001269938.1:p.Thr49Arg
NM_016434.4:c.146C>G (RTEL1) NP_057518.1:p.Thr49Arg
NM_032957.5:c.146C>G (RTEL1) NP_116575.3:p.Thr49Arg