Canonical Allele Identifier: CA9965693

Gene: RTEL1-TNFRSF6B RTEL1

Linked Data

• ClinVar Variation Id: 436594
• ClinVar RCV Id: RCV000503523 ; RCV000765496 ; RCV001272192 ; RCV002446980 ; RCV004535619
• dbSNP Id: rs373210484
• ExAC: 20:62324631 C / A
• gnomAD v2: 20-62324631-C-A
• gnomAD v3: 20-63693278-C-A
• gnomAD v4: 20-63693278-C-A
• COSMIC: COSM1740646 ; COSM1740647 ; COSM1740648
• MyVariant Identifiers: chr20:g.62324631C>A (hg19) ; chr20:g.63693278C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63693278C>A , CM000682.2:g.63693278C>A	GRCh38
NC_000020.10:g.62324631C>A , CM000682.1:g.62324631C>A	GRCh37
NC_000020.9:g.61795075C>A	NCBI36
NG_033901.1:g.40469C>A
NG_046961.1:g.1628C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697815.1:n.1734C>A (RTEL1-TNFRSF6B)
ENST00000508582.7:c.3059C>A (RTEL1)	ENSP00000424307.2:p.Pro1020His
ENST00000318100.9:c.2318C>A (RTEL1)	ENSP00000322287.5:p.Pro773His
ENST00000360203.11:c.2987C>A (RTEL1) MANE Select	ENSP00000353332.5:p.Pro996His
ENST00000482936.6:c.2987C>A (RTEL1)	ENSP00000457868.2:p.Pro996His
ENST00000496281.2:n.2998C>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2318C>A (RTEL1)	ENSP00000322287.5:p.Pro773His
ENST00000360203.9:c.2987C>A (RTEL1)	ENSP00000353332.5:p.Pro996His
ENST00000370003.2:c.722C>A (RTEL1)	ENSP00000359020.1:p.Pro241His
ENST00000370018.7:c.2987C>A (RTEL1)	ENSP00000359035.3:p.Pro996His
ENST00000480273.5:n.3072C>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2987C>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Pro996His
ENST00000492259.6:c.*589C>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*589C>A
ENST00000496281.1:n.2469C>A (RTEL1-TNFRSF6B)
ENST00000496816.5:c.866C>A (RTEL1)	ENSP00000425576.1:p.Pro289His
ENST00000508582.6:c.3059C>A (RTEL1)	ENSP00000424307.2:p.Pro1020His
NM_001283009.1:c.2987C>A (RTEL1)	NP_001269938.1:p.Pro996His
NM_001283010.1:c.2318C>A (RTEL1)	NP_001269939.1:p.Pro773His
NM_016434.3:c.2987C>A (RTEL1)	NP_057518.1:p.Pro996His
NM_032957.4:c.3059C>A (RTEL1)	NP_116575.3:p.Pro1020His
NR_037882.1:n.3814C>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.2987C>A (RTEL1) MANE Select	NP_001269938.1:p.Pro996His
NM_016434.4:c.2987C>A (RTEL1)	NP_057518.1:p.Pro996His
NM_032957.5:c.3059C>A (RTEL1)	NP_116575.3:p.Pro1020His