Canonical Allele Identifier: CA409672076

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• gnomAD v4: 20-63672603-T-A
• MyVariant Identifiers: chr20:g.62303956T>A (hg19) ; chr20:g.63672603T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672603T>A , CM000682.2:g.63672603T>A	GRCh38
NC_000020.10:g.62303956T>A , CM000682.1:g.62303956T>A	GRCh37
NC_000020.9:g.61774400T>A	NCBI36
NG_033901.1:g.19794T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.421T>A (RTEL1)
ENST00000425905.6:c.421T>A (RTEL1)
ENST00000508582.7:c.819T>A (RTEL1)	ENSP00000424307.2:p.Phe273Leu
ENST00000684971.1:n.1178T>A (RTEL1)
ENST00000686756.1:n.1065T>A (RTEL1)
ENST00000687123.1:n.577T>A (RTEL1)
ENST00000692658.1:n.1185T>A (RTEL1)
ENST00000692911.1:n.1474T>A (RTEL1)
ENST00000318100.9:c.78T>A (RTEL1)	ENSP00000322287.5:p.Phe26Leu
ENST00000360203.11:c.747T>A (RTEL1) MANE Select	ENSP00000353332.5:p.Phe249Leu
ENST00000482936.6:c.747T>A (RTEL1)	ENSP00000457868.2:p.Phe249Leu
ENST00000318100.8:c.78T>A (RTEL1)	ENSP00000322287.5:p.Phe26Leu
ENST00000356810.5:c.897T>A (RTEL1)	ENSP00000349265.4:p.Phe299Leu
ENST00000360203.9:c.747T>A (RTEL1)	ENSP00000353332.5:p.Phe249Leu
ENST00000370018.7:c.747T>A (RTEL1)	ENSP00000359035.3:p.Phe249Leu
ENST00000463361.1:n.444T>A (RTEL1)
ENST00000482936.5:c.747T>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Phe249Leu
ENST00000492259.6:c.747T>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Phe249Leu
ENST00000508582.6:c.819T>A (RTEL1)	ENSP00000424307.2:p.Phe273Leu
NM_001283009.1:c.747T>A (RTEL1)	NP_001269938.1:p.Phe249Leu
NM_001283010.1:c.78T>A (RTEL1)	NP_001269939.1:p.Phe26Leu
NM_016434.3:c.747T>A (RTEL1)	NP_057518.1:p.Phe249Leu
NM_032957.4:c.819T>A (RTEL1)	NP_116575.3:p.Phe273Leu
NR_037882.1:n.1574T>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.747T>A (RTEL1) MANE Select	NP_001269938.1:p.Phe249Leu
NM_016434.4:c.747T>A (RTEL1)	NP_057518.1:p.Phe249Leu
NM_032957.5:c.819T>A (RTEL1)	NP_116575.3:p.Phe273Leu