Canonical Allele Identifier: CA409670040

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63662876C>A , CM000682.2:g.63662876C>A	GRCh38
NC_000020.10:g.62294229C>A , CM000682.1:g.62294229C>A	GRCh37
NC_000020.9:g.61764673C>A	NCBI36
NG_033901.1:g.10067C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.525C>A (RTEL1) MANE Select	NP_001269938.1:p.Tyr175Ter
ENST00000360203.11:c.525C>A (RTEL1) MANE Select	ENSP00000353332.5:p.Tyr175Ter
NM_001283009.1:c.525C>A (RTEL1)	NP_001269938.1:p.Tyr175Ter
NM_001283010.1:c.-145C>A (RTEL1)	NP_001269939.1:n.-145C>A
NM_016434.3:c.525C>A (RTEL1)	NP_057518.1:p.Tyr175Ter
NM_016434.4:c.525C>A (RTEL1)	NP_057518.1:p.Tyr175Ter
NM_032957.4:c.597C>A (RTEL1)	NP_116575.3:p.Tyr199Ter
NM_032957.5:c.597C>A (RTEL1)	NP_116575.3:p.Tyr199Ter
NR_037882.1:n.1352C>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-145C>A (RTEL1)	ENSP00000322287.5:n.-145C>A
ENST00000318100.9:c.-145C>A (RTEL1)	ENSP00000322287.5:n.-145C>A
ENST00000356810.5:c.675C>A (RTEL1)	ENSP00000349265.4:p.Tyr225Ter
ENST00000360203.9:c.525C>A (RTEL1)	ENSP00000353332.5:p.Tyr175Ter
ENST00000370018.7:c.525C>A (RTEL1)	ENSP00000359035.3:p.Tyr175Ter
ENST00000425905.6:c.199C>A (RTEL1)
ENST00000425905.7:n.199C>A (RTEL1)
ENST00000482936.5:c.525C>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Tyr175Ter
ENST00000482936.6:c.525C>A (RTEL1)	ENSP00000457868.2:p.Tyr175Ter
ENST00000492259.6:c.525C>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Tyr175Ter
ENST00000508582.6:c.597C>A (RTEL1)	ENSP00000424307.2:p.Tyr199Ter
ENST00000508582.7:c.597C>A (RTEL1)	ENSP00000424307.2:p.Tyr199Ter
ENST00000645309.1:n.222C>A (RTEL1)
ENST00000684971.1:n.956C>A (RTEL1)
ENST00000686756.1:n.843C>A (RTEL1)
ENST00000687123.1:n.355C>A (RTEL1)
ENST00000692658.1:n.963C>A (RTEL1)
ENST00000692911.1:n.1252C>A (RTEL1)