Canonical Allele Identifier: CA409670086

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 540926
• ClinVar RCV Id: RCV000651087
• dbSNP Id: rs1555899932
• MyVariant Identifiers: chr20:g.62294239G>T (hg19) ; chr20:g.63662886G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63662886G>T , CM000682.2:g.63662886G>T	GRCh38
NC_000020.10:g.62294239G>T , CM000682.1:g.62294239G>T	GRCh37
NC_000020.9:g.61764683G>T	NCBI36
NG_033901.1:g.10077G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.209G>T (RTEL1)
ENST00000425905.6:c.209G>T (RTEL1)
ENST00000508582.7:c.607G>T (RTEL1)	ENSP00000424307.2:p.Glu203Ter
ENST00000684971.1:n.966G>T (RTEL1)
ENST00000686756.1:n.853G>T (RTEL1)
ENST00000687123.1:n.365G>T (RTEL1)
ENST00000692658.1:n.973G>T (RTEL1)
ENST00000692911.1:n.1262G>T (RTEL1)
ENST00000318100.9:c.-135G>T (RTEL1)	ENSP00000322287.5:n.-135G>T
ENST00000360203.11:c.535G>T (RTEL1) MANE Select	ENSP00000353332.5:p.Glu179Ter
ENST00000482936.6:c.535G>T (RTEL1)	ENSP00000457868.2:p.Glu179Ter
ENST00000645309.1:n.232G>T (RTEL1)
ENST00000318100.8:c.-135G>T (RTEL1)	ENSP00000322287.5:n.-135G>T
ENST00000356810.5:c.685G>T (RTEL1)	ENSP00000349265.4:p.Glu229Ter
ENST00000360203.9:c.535G>T (RTEL1)	ENSP00000353332.5:p.Glu179Ter
ENST00000370018.7:c.535G>T (RTEL1)	ENSP00000359035.3:p.Glu179Ter
ENST00000482936.5:c.535G>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Glu179Ter
ENST00000492259.6:c.535G>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Glu179Ter
ENST00000508582.6:c.607G>T (RTEL1)	ENSP00000424307.2:p.Glu203Ter
NM_001283009.1:c.535G>T (RTEL1)	NP_001269938.1:p.Glu179Ter
NM_001283010.1:c.-135G>T (RTEL1)	NP_001269939.1:n.-135G>T
NM_016434.3:c.535G>T (RTEL1)	NP_057518.1:p.Glu179Ter
NM_032957.4:c.607G>T (RTEL1)	NP_116575.3:p.Glu203Ter
NR_037882.1:n.1362G>T (RTEL1-TNFRSF6B)
NM_001283009.2:c.535G>T (RTEL1) MANE Select	NP_001269938.1:p.Glu179Ter
NM_016434.4:c.535G>T (RTEL1)	NP_057518.1:p.Glu179Ter
NM_032957.5:c.607G>T (RTEL1)	NP_116575.3:p.Glu203Ter