Canonical Allele Identifier: CA409679717

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63690125G>A , CM000682.2:g.63690125G>A	GRCh38
NC_000020.10:g.62321478G>A , CM000682.1:g.62321478G>A	GRCh37
NC_000020.9:g.61791922G>A	NCBI36
NG_033901.1:g.37316G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2180G>A (RTEL1) MANE Select	NP_001269938.1:p.Trp727Ter
ENST00000360203.11:c.2180G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Trp727Ter
NM_001283009.1:c.2180G>A (RTEL1)	NP_001269938.1:p.Trp727Ter
NM_001283010.1:c.1511G>A (RTEL1)	NP_001269939.1:p.Trp504Ter
NM_016434.3:c.2180G>A (RTEL1)	NP_057518.1:p.Trp727Ter
NM_016434.4:c.2180G>A (RTEL1)	NP_057518.1:p.Trp727Ter
NM_032957.4:c.2252G>A (RTEL1)	NP_116575.3:p.Trp751Ter
NM_032957.5:c.2252G>A (RTEL1)	NP_116575.3:p.Trp751Ter
NR_037882.1:n.3007G>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1511G>A (RTEL1)	ENSP00000322287.5:p.Trp504Ter
ENST00000318100.9:c.1511G>A (RTEL1)	ENSP00000322287.5:p.Trp504Ter
ENST00000360203.9:c.2180G>A (RTEL1)	ENSP00000353332.5:p.Trp727Ter
ENST00000370003.2:c.-86G>A (RTEL1)	ENSP00000359020.1:n.-86G>A
ENST00000370018.7:c.2180G>A (RTEL1)	ENSP00000359035.3:p.Trp727Ter
ENST00000425905.5:c.359G>A (RTEL1)	ENSP00000388063.1:p.Trp120Ter
ENST00000425905.6:c.1707G>A (RTEL1)
ENST00000425905.7:n.1707G>A (RTEL1)
ENST00000480273.5:n.2265G>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2180G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Trp727Ter
ENST00000482936.6:c.2180G>A (RTEL1)	ENSP00000457868.2:p.Trp727Ter
ENST00000492259.6:c.2226-169G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.2226-169G>A
ENST00000496281.1:n.695G>A (RTEL1-TNFRSF6B)
ENST00000496281.2:n.1224G>A (RTEL1-TNFRSF6B)
ENST00000496816.5:c.59G>A (RTEL1)	ENSP00000425576.1:p.Trp20Ter
ENST00000508582.6:c.2252G>A (RTEL1)	ENSP00000424307.2:p.Trp751Ter
ENST00000508582.7:c.2252G>A (RTEL1)	ENSP00000424307.2:p.Trp751Ter
ENST00000687123.1:n.1825-19G>A (RTEL1)
ENST00000697814.1:n.491G>A (RTEL1)
ENST00000697815.1:n.139G>A (RTEL1-TNFRSF6B)