Canonical Allele Identifier: CA409671971

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 2931662
• ClinVar RCV Id: RCV003792684
• gnomAD v4: 20-63672577-G-A
• MyVariant Identifiers: chr20:g.62303930G>A (hg19) ; chr20:g.63672577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672577G>A , CM000682.2:g.63672577G>A	GRCh38
NC_000020.10:g.62303930G>A , CM000682.1:g.62303930G>A	GRCh37
NC_000020.9:g.61774374G>A	NCBI36
NG_033901.1:g.19768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.395G>A (RTEL1)
ENST00000425905.6:c.395G>A (RTEL1)
ENST00000508582.7:c.793G>A (RTEL1)	ENSP00000424307.2:p.Asp265Asn
ENST00000684971.1:n.1152G>A (RTEL1)
ENST00000686756.1:n.1039G>A (RTEL1)
ENST00000687123.1:n.551G>A (RTEL1)
ENST00000692658.1:n.1159G>A (RTEL1)
ENST00000692911.1:n.1448G>A (RTEL1)
ENST00000318100.9:c.52G>A (RTEL1)	ENSP00000322287.5:p.Asp18Asn
ENST00000360203.11:c.721G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Asp241Asn
ENST00000482936.6:c.721G>A (RTEL1)	ENSP00000457868.2:p.Asp241Asn
ENST00000318100.8:c.52G>A (RTEL1)	ENSP00000322287.5:p.Asp18Asn
ENST00000356810.5:c.871G>A (RTEL1)	ENSP00000349265.4:p.Asp291Asn
ENST00000360203.9:c.721G>A (RTEL1)	ENSP00000353332.5:p.Asp241Asn
ENST00000370018.7:c.721G>A (RTEL1)	ENSP00000359035.3:p.Asp241Asn
ENST00000463361.1:n.418G>A (RTEL1)
ENST00000482936.5:c.721G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Asp241Asn
ENST00000492259.6:c.721G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Asp241Asn
ENST00000508582.6:c.793G>A (RTEL1)	ENSP00000424307.2:p.Asp265Asn
NM_001283009.1:c.721G>A (RTEL1)	NP_001269938.1:p.Asp241Asn
NM_001283010.1:c.52G>A (RTEL1)	NP_001269939.1:p.Asp18Asn
NM_016434.3:c.721G>A (RTEL1)	NP_057518.1:p.Asp241Asn
NM_032957.4:c.793G>A (RTEL1)	NP_116575.3:p.Asp265Asn
NR_037882.1:n.1548G>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.721G>A (RTEL1) MANE Select	NP_001269938.1:p.Asp241Asn
NM_016434.4:c.721G>A (RTEL1)	NP_057518.1:p.Asp241Asn
NM_032957.5:c.793G>A (RTEL1)	NP_116575.3:p.Asp265Asn