Canonical Allele Identifier: CA409672008

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• gnomAD v4: 20-63672585-G-T
• MyVariant Identifiers: chr20:g.62303938G>T (hg19) ; chr20:g.63672585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672585G>T , CM000682.2:g.63672585G>T	GRCh38
NC_000020.10:g.62303938G>T , CM000682.1:g.62303938G>T	GRCh37
NC_000020.9:g.61774382G>T	NCBI36
NG_033901.1:g.19776G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.403G>T (RTEL1)
ENST00000425905.6:c.403G>T (RTEL1)
ENST00000508582.7:c.801G>T (RTEL1)	ENSP00000424307.2:p.Lys267Asn
ENST00000684971.1:n.1160G>T (RTEL1)
ENST00000686756.1:n.1047G>T (RTEL1)
ENST00000687123.1:n.559G>T (RTEL1)
ENST00000692658.1:n.1167G>T (RTEL1)
ENST00000692911.1:n.1456G>T (RTEL1)
ENST00000318100.9:c.60G>T (RTEL1)	ENSP00000322287.5:p.Lys20Asn
ENST00000360203.11:c.729G>T (RTEL1) MANE Select	ENSP00000353332.5:p.Lys243Asn
ENST00000482936.6:c.729G>T (RTEL1)	ENSP00000457868.2:p.Lys243Asn
ENST00000318100.8:c.60G>T (RTEL1)	ENSP00000322287.5:p.Lys20Asn
ENST00000356810.5:c.879G>T (RTEL1)	ENSP00000349265.4:p.Lys293Asn
ENST00000360203.9:c.729G>T (RTEL1)	ENSP00000353332.5:p.Lys243Asn
ENST00000370018.7:c.729G>T (RTEL1)	ENSP00000359035.3:p.Lys243Asn
ENST00000463361.1:n.426G>T (RTEL1)
ENST00000482936.5:c.729G>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Lys243Asn
ENST00000492259.6:c.729G>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Lys243Asn
ENST00000508582.6:c.801G>T (RTEL1)	ENSP00000424307.2:p.Lys267Asn
NM_001283009.1:c.729G>T (RTEL1)	NP_001269938.1:p.Lys243Asn
NM_001283010.1:c.60G>T (RTEL1)	NP_001269939.1:p.Lys20Asn
NM_016434.3:c.729G>T (RTEL1)	NP_057518.1:p.Lys243Asn
NM_032957.4:c.801G>T (RTEL1)	NP_116575.3:p.Lys267Asn
NR_037882.1:n.1556G>T (RTEL1-TNFRSF6B)
NM_001283009.2:c.729G>T (RTEL1) MANE Select	NP_001269938.1:p.Lys243Asn
NM_016434.4:c.729G>T (RTEL1)	NP_057518.1:p.Lys243Asn
NM_032957.5:c.801G>T (RTEL1)	NP_116575.3:p.Lys267Asn