Canonical Allele Identifier: CA279370

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 217518
• ClinVar RCV Id: RCV000201560 ; RCV000588351 ; RCV003765299
• dbSNP Id: rs863225129
• gnomAD v4: 20-63687936-G-A
• COSMIC: COSM4100455 ; COSM4100456 ; COSM4100457
• MyVariant Identifiers: chr20:g.62319289G>A (hg19) ; chr20:g.63687936G>A (hg38)
• PubMed: PMID:25607374

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63687936G>A , CM000682.2:g.63687936G>A	GRCh38
NC_000020.10:g.62319289G>A , CM000682.1:g.62319289G>A	GRCh37
NC_000020.9:g.61789733G>A	NCBI36
NG_033901.1:g.35127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.1156-1G>A (RTEL1)
ENST00000425905.6:c.1156-1G>A (RTEL1)
ENST00000508582.7:c.1554-1G>A (RTEL1)	ENSP00000424307.2:n.1554-1G>A
ENST00000687123.1:n.1312-1G>A (RTEL1)
ENST00000318100.9:c.813-1G>A (RTEL1)	ENSP00000322287.5:n.813-1G>A
ENST00000360203.11:c.1482-1G>A (RTEL1) MANE Select	ENSP00000353332.5:n.1482-1G>A
ENST00000482936.6:c.1482-1G>A (RTEL1)	ENSP00000457868.2:n.1482-1G>A
ENST00000318100.8:c.813-1G>A (RTEL1)	ENSP00000322287.5:n.813-1G>A
ENST00000360203.9:c.1482-1G>A (RTEL1)	ENSP00000353332.5:n.1482-1G>A
ENST00000370018.7:c.1482-1G>A (RTEL1)	ENSP00000359035.3:n.1482-1G>A
ENST00000480273.5:n.1566G>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.1482-1G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.1482-1G>A
ENST00000492259.6:c.1566-1G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.1566-1G>A
ENST00000508582.6:c.1554-1G>A (RTEL1)	ENSP00000424307.2:n.1554-1G>A
NM_001283009.1:c.1482-1G>A (RTEL1)	NP_001269938.1:n.1482-1G>A
NM_001283010.1:c.813-1G>A (RTEL1)	NP_001269939.1:n.813-1G>A
NM_016434.3:c.1482-1G>A (RTEL1)	NP_057518.1:n.1482-1G>A
NM_032957.4:c.1554-1G>A (RTEL1)	NP_116575.3:n.1554-1G>A
NR_037882.1:n.2309-1G>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.1482-1G>A (RTEL1) MANE Select	NP_001269938.1:n.1482-1G>A
NM_016434.4:c.1482-1G>A (RTEL1)	NP_057518.1:n.1482-1G>A
NM_032957.5:c.1554-1G>A (RTEL1)	NP_116575.3:n.1554-1G>A