Canonical Allele Identifier: CA409671917

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 2566302
• ClinVar RCV Id: RCV003293565
• dbSNP Id: rs2090265981
• MyVariant Identifiers: chr20:g.62303916G>A (hg19) ; chr20:g.63672563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672563G>A , CM000682.2:g.63672563G>A	GRCh38
NC_000020.10:g.62303916G>A , CM000682.1:g.62303916G>A	GRCh37
NC_000020.9:g.61774360G>A	NCBI36
NG_033901.1:g.19754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.381G>A (RTEL1)
ENST00000425905.6:c.381G>A (RTEL1)
ENST00000508582.7:c.779G>A (RTEL1)	ENSP00000424307.2:p.Arg260Lys
ENST00000684971.1:n.1138G>A (RTEL1)
ENST00000686756.1:n.1025G>A (RTEL1)
ENST00000687123.1:n.537G>A (RTEL1)
ENST00000692658.1:n.1145G>A (RTEL1)
ENST00000692911.1:n.1434G>A (RTEL1)
ENST00000318100.9:c.38G>A (RTEL1)	ENSP00000322287.5:p.Arg13Lys
ENST00000360203.11:c.707G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Arg236Lys
ENST00000482936.6:c.707G>A (RTEL1)	ENSP00000457868.2:p.Arg236Lys
ENST00000318100.8:c.38G>A (RTEL1)	ENSP00000322287.5:p.Arg13Lys
ENST00000356810.5:c.857G>A (RTEL1)	ENSP00000349265.4:p.Arg286Lys
ENST00000360203.9:c.707G>A (RTEL1)	ENSP00000353332.5:p.Arg236Lys
ENST00000370018.7:c.707G>A (RTEL1)	ENSP00000359035.3:p.Arg236Lys
ENST00000463361.1:n.404G>A (RTEL1)
ENST00000482936.5:c.707G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Arg236Lys
ENST00000492259.6:c.707G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Arg236Lys
ENST00000508582.6:c.779G>A (RTEL1)	ENSP00000424307.2:p.Arg260Lys
NM_001283009.1:c.707G>A (RTEL1)	NP_001269938.1:p.Arg236Lys
NM_001283010.1:c.38G>A (RTEL1)	NP_001269939.1:p.Arg13Lys
NM_016434.3:c.707G>A (RTEL1)	NP_057518.1:p.Arg236Lys
NM_032957.4:c.779G>A (RTEL1)	NP_116575.3:p.Arg260Lys
NR_037882.1:n.1534G>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.707G>A (RTEL1) MANE Select	NP_001269938.1:p.Arg236Lys
NM_016434.4:c.707G>A (RTEL1)	NP_057518.1:p.Arg236Lys
NM_032957.5:c.779G>A (RTEL1)	NP_116575.3:p.Arg260Lys