Canonical Allele Identifier: CA9965940

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63694917C>G , CM000682.2:g.63694917C>G	GRCh38
NC_000020.10:g.62326270C>G , CM000682.1:g.62326270C>G	GRCh37
NC_000020.9:g.61796714C>G	NCBI36
NG_033901.1:g.42108C>G
NG_046961.1:g.3267C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.3286C>G (RTEL1) MANE Select	NP_001269938.1:p.Leu1096Val
ENST00000360203.11:c.3286C>G (RTEL1) MANE Select	ENSP00000353332.5:p.Leu1096Val
NM_001283009.1:c.3286C>G (RTEL1)	NP_001269938.1:p.Leu1096Val
NM_001283010.1:c.2617C>G (RTEL1)	NP_001269939.1:p.Leu873Val
NM_016434.3:c.3286C>G (RTEL1)	NP_057518.1:p.Leu1096Val
NM_016434.4:c.3286C>G (RTEL1)	NP_057518.1:p.Leu1096Val
NM_032957.4:c.3358C>G (RTEL1)	NP_116575.3:p.Leu1120Val
NM_032957.5:c.3358C>G (RTEL1)	NP_116575.3:p.Leu1120Val
NR_037882.1:n.4113C>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2617C>G (RTEL1)	ENSP00000322287.5:p.Leu873Val
ENST00000318100.9:c.2617C>G (RTEL1)	ENSP00000322287.5:p.Leu873Val
ENST00000360203.9:c.3286C>G (RTEL1)	ENSP00000353332.5:p.Leu1096Val
ENST00000370003.2:c.1021C>G (RTEL1)	ENSP00000359020.1:p.Leu341Val
ENST00000370018.7:c.3286C>G (RTEL1)	ENSP00000359035.3:p.Leu1096Val
ENST00000480273.5:n.3371C>G (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3286C>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Leu1096Val
ENST00000492259.6:c.*888C>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*888C>G
ENST00000496281.1:n.2768C>G (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3297C>G (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1218C>G (RTEL1)	ENSP00000425576.1:n.1218C>G
ENST00000508582.6:c.3358C>G (RTEL1)	ENSP00000424307.2:p.Leu1120Val
ENST00000508582.7:c.3358C>G (RTEL1)	ENSP00000424307.2:p.Leu1120Val
ENST00000697815.1:n.2033C>G (RTEL1-TNFRSF6B)