Canonical Allele Identifier: CA9964343

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63666047T>C , CM000682.2:g.63666047T>C	GRCh38
NC_000020.10:g.62297400T>C , CM000682.1:g.62297400T>C	GRCh37
NC_000020.9:g.61767844T>C	NCBI36
NG_033901.1:g.13238T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.256T>C (RTEL1)
ENST00000425905.6:c.256T>C (RTEL1)
ENST00000508582.7:c.654T>C (RTEL1)	ENSP00000424307.2:p.Ile218=
ENST00000684971.1:n.1013T>C (RTEL1)
ENST00000686756.1:n.900T>C (RTEL1)
ENST00000687123.1:n.412T>C (RTEL1)
ENST00000692658.1:n.1020T>C (RTEL1)
ENST00000692911.1:n.1309T>C (RTEL1)
ENST00000318100.9:c.-88T>C (RTEL1)	ENSP00000322287.5:n.-88T>C
ENST00000360203.11:c.582T>C (RTEL1) MANE Select	ENSP00000353332.5:p.Ile194=
ENST00000482936.6:c.582T>C (RTEL1)	ENSP00000457868.2:p.Ile194=
ENST00000318100.8:c.-88T>C (RTEL1)	ENSP00000322287.5:n.-88T>C
ENST00000356810.5:c.732T>C (RTEL1)	ENSP00000349265.4:p.Ile244=
ENST00000360203.9:c.582T>C (RTEL1)	ENSP00000353332.5:p.Ile194=
ENST00000370018.7:c.582T>C (RTEL1)	ENSP00000359035.3:p.Ile194=
ENST00000463361.1:n.279T>C (RTEL1)
ENST00000482936.5:c.582T>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ile194=
ENST00000492259.6:c.582T>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Ile194=
ENST00000508582.6:c.654T>C (RTEL1)	ENSP00000424307.2:p.Ile218=
NM_001283009.1:c.582T>C (RTEL1)	NP_001269938.1:p.Ile194=
NM_001283010.1:c.-88T>C (RTEL1)	NP_001269939.1:n.-88T>C
NM_016434.3:c.582T>C (RTEL1)	NP_057518.1:p.Ile194=
NM_032957.4:c.654T>C (RTEL1)	NP_116575.3:p.Ile218=
NR_037882.1:n.1409T>C (RTEL1-TNFRSF6B)
NM_001283009.2:c.582T>C (RTEL1) MANE Select	NP_001269938.1:p.Ile194=
NM_016434.4:c.582T>C (RTEL1)	NP_057518.1:p.Ile194=
NM_032957.5:c.654T>C (RTEL1)	NP_116575.3:p.Ile218=