Canonical Allele Identifier: CA409686563

Gene: RTEL1-TNFRSF6B RTEL1

Linked Data

• ClinVar Variation Id: 2924177
• ClinVar RCV Id: RCV003785927
• dbSNP Id: rs2090957928
• gnomAD v4: 20-63695544-C-T
• MyVariant Identifiers: chr20:g.62326897C>T (hg19) ; chr20:g.63695544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63695544C>T , CM000682.2:g.63695544C>T	GRCh38
NC_000020.10:g.62326897C>T , CM000682.1:g.62326897C>T	GRCh37
NC_000020.9:g.61797341C>T	NCBI36
NG_033901.1:g.42735C>T
NG_046961.1:g.3894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697815.1:n.2463C>T (RTEL1-TNFRSF6B)
ENST00000508582.7:c.3724+64C>T (RTEL1)	ENSP00000424307.2:n.3724+64C>T
ENST00000318100.9:c.2983+64C>T (RTEL1)	ENSP00000322287.5:n.2983+64C>T
ENST00000360203.11:c.3716C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Ser1239Leu
ENST00000496281.2:n.3727C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2983+64C>T (RTEL1)	ENSP00000322287.5:n.2983+64C>T
ENST00000360203.9:c.3716C>T (RTEL1)	ENSP00000353332.5:p.Ser1239Leu
ENST00000370003.2:c.1451C>T (RTEL1)	ENSP00000359020.1:p.Ser484Leu
ENST00000370018.7:c.3652+64C>T (RTEL1)	ENSP00000359035.3:n.3652+64C>T
ENST00000480273.5:n.3737+64C>T (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3716C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ser1239Leu
ENST00000492259.6:c.*1254+64C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*1254+64C>T
ENST00000496281.1:n.3198C>T (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1648C>T (RTEL1)	ENSP00000425576.1:n.1648C>T
ENST00000508582.6:c.3724+64C>T (RTEL1)	ENSP00000424307.2:n.3724+64C>T
NM_001283009.1:c.3716C>T (RTEL1)	NP_001269938.1:p.Ser1239Leu
NM_001283010.1:c.2983+64C>T (RTEL1)	NP_001269939.1:n.2983+64C>T
NM_016434.3:c.3652+64C>T (RTEL1)	NP_057518.1:n.3652+64C>T
NM_032957.4:c.3724+64C>T (RTEL1)	NP_116575.3:n.3724+64C>T
NR_037882.1:n.4543C>T (RTEL1-TNFRSF6B)
NM_001283009.2:c.3716C>T (RTEL1) MANE Select	NP_001269938.1:p.Ser1239Leu
NM_016434.4:c.3652+64C>T (RTEL1)	NP_057518.1:n.3652+64C>T
NM_032957.5:c.3724+64C>T (RTEL1)	NP_116575.3:n.3724+64C>T