Canonical Allele Identifier: CA210103

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 217284
• ClinVar RCV Id: RCV000201651 ; RCV000590169 ; RCV003765296 ; RCV003329258
• dbSNP Id: rs776744306
• MyVariant Identifiers: chr20:g.62321795G>C (hg19) ; chr20:g.63690442G>C (hg38)
• PubMed: PMID:25607374

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63690442G>C , CM000682.2:g.63690442G>C	GRCh38
NC_000020.10:g.62321795G>C , CM000682.1:g.62321795G>C	GRCh37
NC_000020.9:g.61792239G>C	NCBI36
NG_033901.1:g.37633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.1940+1G>C (RTEL1)
ENST00000425905.6:c.1940+1G>C (RTEL1)
ENST00000697815.1:n.372+1G>C (RTEL1-TNFRSF6B)
ENST00000508582.7:c.2485+1G>C (RTEL1)	ENSP00000424307.2:n.2485+1G>C
ENST00000318100.9:c.1744+1G>C (RTEL1)	ENSP00000322287.5:n.1744+1G>C
ENST00000360203.11:c.2413+1G>C (RTEL1) MANE Select	ENSP00000353332.5:n.2413+1G>C
ENST00000482936.6:c.2413+1G>C (RTEL1)	ENSP00000457868.2:n.2413+1G>C
ENST00000496281.2:n.1457+1G>C (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1744+1G>C (RTEL1)	ENSP00000322287.5:n.1744+1G>C
ENST00000360203.9:c.2413+1G>C (RTEL1)	ENSP00000353332.5:n.2413+1G>C
ENST00000370003.2:c.148+1G>C (RTEL1)	ENSP00000359020.1:n.148+1G>C
ENST00000370018.7:c.2413+1G>C (RTEL1)	ENSP00000359035.3:n.2413+1G>C
ENST00000425905.5:c.592+1G>C (RTEL1)	ENSP00000388063.1:n.592+1G>C
ENST00000480273.5:n.2498+1G>C (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2413+1G>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.2413+1G>C
ENST00000492259.6:c.*15+1G>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*15+1G>C
ENST00000496281.1:n.928+1G>C (RTEL1-TNFRSF6B)
ENST00000496816.5:c.292+1G>C (RTEL1)	ENSP00000425576.1:n.292+1G>C
ENST00000508582.6:c.2485+1G>C (RTEL1)	ENSP00000424307.2:n.2485+1G>C
NM_001283009.1:c.2413+1G>C (RTEL1)	NP_001269938.1:n.2413+1G>C
NM_001283010.1:c.1744+1G>C (RTEL1)	NP_001269939.1:n.1744+1G>C
NM_016434.3:c.2413+1G>C (RTEL1)	NP_057518.1:n.2413+1G>C
NM_032957.4:c.2485+1G>C (RTEL1)	NP_116575.3:n.2485+1G>C
NR_037882.1:n.3240+1G>C (RTEL1-TNFRSF6B)
NM_001283009.2:c.2413+1G>C (RTEL1) MANE Select	NP_001269938.1:n.2413+1G>C
NM_016434.4:c.2413+1G>C (RTEL1)	NP_057518.1:n.2413+1G>C
NM_032957.5:c.2485+1G>C (RTEL1)	NP_116575.3:n.2485+1G>C