Canonical Allele Identifier: CA409678121

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• MyVariant Identifiers: chr20:g.62319931G>C (hg19) ; chr20:g.63688578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63688578G>C , CM000682.2:g.63688578G>C	GRCh38
NC_000020.10:g.62319931G>C , CM000682.1:g.62319931G>C	GRCh37
NC_000020.9:g.61790375G>C	NCBI36
NG_033901.1:g.35769G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.1447G>C (RTEL1)
ENST00000425905.6:c.1447G>C (RTEL1)
ENST00000508582.7:c.1845G>C (RTEL1)	ENSP00000424307.2:p.Glu615Asp
ENST00000687123.1:n.1603G>C (RTEL1)
ENST00000318100.9:c.1104G>C (RTEL1)	ENSP00000322287.5:p.Glu368Asp
ENST00000360203.11:c.1773G>C (RTEL1) MANE Select	ENSP00000353332.5:p.Glu591Asp
ENST00000482936.6:c.1773G>C (RTEL1)	ENSP00000457868.2:p.Glu591Asp
ENST00000496281.2:n.147G>C (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1104G>C (RTEL1)	ENSP00000322287.5:p.Glu368Asp
ENST00000360203.9:c.1773G>C (RTEL1)	ENSP00000353332.5:p.Glu591Asp
ENST00000370018.7:c.1773G>C (RTEL1)	ENSP00000359035.3:p.Glu591Asp
ENST00000425905.5:c.99G>C (RTEL1)	ENSP00000388063.1:p.Glu33Asp
ENST00000480273.5:n.1858G>C (RTEL1-TNFRSF6B)
ENST00000482936.5:c.1773G>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Glu591Asp
ENST00000492259.6:c.1857G>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Glu619Asp
ENST00000508582.6:c.1845G>C (RTEL1)	ENSP00000424307.2:p.Glu615Asp
NM_001283009.1:c.1773G>C (RTEL1)	NP_001269938.1:p.Glu591Asp
NM_001283010.1:c.1104G>C (RTEL1)	NP_001269939.1:p.Glu368Asp
NM_016434.3:c.1773G>C (RTEL1)	NP_057518.1:p.Glu591Asp
NM_032957.4:c.1845G>C (RTEL1)	NP_116575.3:p.Glu615Asp
NR_037882.1:n.2600G>C (RTEL1-TNFRSF6B)
NM_001283009.2:c.1773G>C (RTEL1) MANE Select	NP_001269938.1:p.Glu591Asp
NM_016434.4:c.1773G>C (RTEL1)	NP_057518.1:p.Glu591Asp
NM_032957.5:c.1845G>C (RTEL1)	NP_116575.3:p.Glu615Asp