Canonical Allele Identifier: CA409710337

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63695631G>C , CM000682.2:g.63695631G>C	GRCh38
NC_000020.10:g.62326984G>C , CM000682.1:g.62326984G>C	GRCh37
NC_000020.9:g.61797428G>C	NCBI36
NG_033901.1:g.42822G>C
NG_046961.1:g.3981G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.3803G>C (RTEL1) MANE Select	NP_001269938.1:p.Cys1268Ser
ENST00000360203.11:c.3803G>C (RTEL1) MANE Select	ENSP00000353332.5:p.Cys1268Ser
NM_001283009.1:c.3803G>C (RTEL1)	NP_001269938.1:p.Cys1268Ser
NM_001283010.1:c.2984-147G>C (RTEL1)	NP_001269939.1:n.2984-147G>C
NM_016434.3:c.3653-147G>C (RTEL1)	NP_057518.1:n.3653-147G>C
NM_016434.4:c.3653-147G>C (RTEL1)	NP_057518.1:n.3653-147G>C
NM_032957.4:c.3725-147G>C (RTEL1)	NP_116575.3:n.3725-147G>C
NM_032957.5:c.3725-147G>C (RTEL1)	NP_116575.3:n.3725-147G>C
NR_037882.1:n.4630G>C (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2984-147G>C (RTEL1)	ENSP00000322287.5:n.2984-147G>C
ENST00000318100.9:c.2984-147G>C (RTEL1)	ENSP00000322287.5:n.2984-147G>C
ENST00000360203.9:c.3803G>C (RTEL1)	ENSP00000353332.5:p.Cys1268Ser
ENST00000370003.2:c.1538G>C (RTEL1)	ENSP00000359020.1:p.Cys513Ser
ENST00000370018.7:c.3653-147G>C (RTEL1)	ENSP00000359035.3:n.3653-147G>C
ENST00000480273.5:n.3738-147G>C (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3803G>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Cys1268Ser
ENST00000492259.6:c.*1255-147G>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*1255-147G>C
ENST00000496281.1:n.3285G>C (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3814G>C (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1735G>C (RTEL1)	ENSP00000425576.1:n.1735G>C
ENST00000508582.6:c.3725-147G>C (RTEL1)	ENSP00000424307.2:n.3725-147G>C
ENST00000508582.7:c.3725-147G>C (RTEL1)	ENSP00000424307.2:n.3725-147G>C
ENST00000697815.1:n.2550G>C (RTEL1-TNFRSF6B)