Canonical Allele Identifier: CA409675654

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63685544T>G , CM000682.2:g.63685544T>G	GRCh38
NC_000020.10:g.62316897T>G , CM000682.1:g.62316897T>G	GRCh37
NC_000020.9:g.61787341T>G	NCBI36
NG_033901.1:g.32735T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.1213T>G (RTEL1) MANE Select	NP_001269938.1:p.Ser405Ala
ENST00000360203.11:c.1213T>G (RTEL1) MANE Select	ENSP00000353332.5:p.Ser405Ala
NM_001283009.1:c.1213T>G (RTEL1)	NP_001269938.1:p.Ser405Ala
NM_001283010.1:c.544T>G (RTEL1)	NP_001269939.1:p.Ser182Ala
NM_016434.3:c.1213T>G (RTEL1)	NP_057518.1:p.Ser405Ala
NM_016434.4:c.1213T>G (RTEL1)	NP_057518.1:p.Ser405Ala
NM_032957.4:c.1285T>G (RTEL1)	NP_116575.3:p.Ser429Ala
NM_032957.5:c.1285T>G (RTEL1)	NP_116575.3:p.Ser429Ala
NR_037882.1:n.2040T>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.544T>G (RTEL1)	ENSP00000322287.5:p.Ser182Ala
ENST00000318100.9:c.544T>G (RTEL1)	ENSP00000322287.5:p.Ser182Ala
ENST00000360203.9:c.1213T>G (RTEL1)	ENSP00000353332.5:p.Ser405Ala
ENST00000370018.7:c.1213T>G (RTEL1)	ENSP00000359035.3:p.Ser405Ala
ENST00000425905.6:c.887T>G (RTEL1)
ENST00000425905.7:n.887T>G (RTEL1)
ENST00000482936.5:c.1213T>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ser405Ala
ENST00000482936.6:c.1213T>G (RTEL1)	ENSP00000457868.2:p.Ser405Ala
ENST00000492259.6:c.1297T>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Ser433Ala
ENST00000508582.6:c.1285T>G (RTEL1)	ENSP00000424307.2:p.Ser429Ala
ENST00000508582.7:c.1285T>G (RTEL1)	ENSP00000424307.2:p.Ser429Ala
ENST00000647249.1:n.144T>G (RTEL1)
ENST00000687123.1:n.1043T>G (RTEL1)