Canonical Allele Identifier: CA409672036

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• MyVariant Identifiers: chr20:g.62303946T>C (hg19) ; chr20:g.63672593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672593T>C , CM000682.2:g.63672593T>C	GRCh38
NC_000020.10:g.62303946T>C , CM000682.1:g.62303946T>C	GRCh37
NC_000020.9:g.61774390T>C	NCBI36
NG_033901.1:g.19784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.411T>C (RTEL1)
ENST00000425905.6:c.411T>C (RTEL1)
ENST00000508582.7:c.809T>C (RTEL1)	ENSP00000424307.2:p.Val270Ala
ENST00000684971.1:n.1168T>C (RTEL1)
ENST00000686756.1:n.1055T>C (RTEL1)
ENST00000687123.1:n.567T>C (RTEL1)
ENST00000692658.1:n.1175T>C (RTEL1)
ENST00000692911.1:n.1464T>C (RTEL1)
ENST00000318100.9:c.68T>C (RTEL1)	ENSP00000322287.5:p.Val23Ala
ENST00000360203.11:c.737T>C (RTEL1) MANE Select	ENSP00000353332.5:p.Val246Ala
ENST00000482936.6:c.737T>C (RTEL1)	ENSP00000457868.2:p.Val246Ala
ENST00000318100.8:c.68T>C (RTEL1)	ENSP00000322287.5:p.Val23Ala
ENST00000356810.5:c.887T>C (RTEL1)	ENSP00000349265.4:p.Val296Ala
ENST00000360203.9:c.737T>C (RTEL1)	ENSP00000353332.5:p.Val246Ala
ENST00000370018.7:c.737T>C (RTEL1)	ENSP00000359035.3:p.Val246Ala
ENST00000463361.1:n.434T>C (RTEL1)
ENST00000482936.5:c.737T>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Val246Ala
ENST00000492259.6:c.737T>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Val246Ala
ENST00000508582.6:c.809T>C (RTEL1)	ENSP00000424307.2:p.Val270Ala
NM_001283009.1:c.737T>C (RTEL1)	NP_001269938.1:p.Val246Ala
NM_001283010.1:c.68T>C (RTEL1)	NP_001269939.1:p.Val23Ala
NM_016434.3:c.737T>C (RTEL1)	NP_057518.1:p.Val246Ala
NM_032957.4:c.809T>C (RTEL1)	NP_116575.3:p.Val270Ala
NR_037882.1:n.1564T>C (RTEL1-TNFRSF6B)
NM_001283009.2:c.737T>C (RTEL1) MANE Select	NP_001269938.1:p.Val246Ala
NM_016434.4:c.737T>C (RTEL1)	NP_057518.1:p.Val246Ala
NM_032957.5:c.809T>C (RTEL1)	NP_116575.3:p.Val270Ala