Canonical Allele Identifier: CA9964515

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63678161G>A , CM000682.2:g.63678161G>A	GRCh38
NC_000020.10:g.62309514G>A , CM000682.1:g.62309514G>A	GRCh37
NC_000020.9:g.61779958G>A	NCBI36
NG_033901.1:g.25352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.610G>A (RTEL1)
ENST00000425905.6:c.610G>A (RTEL1)
ENST00000508582.7:c.1008G>A (RTEL1)	ENSP00000424307.2:p.Leu336=
ENST00000684971.1:n.1367G>A (RTEL1)
ENST00000686756.1:n.1254G>A (RTEL1)
ENST00000687123.1:n.766G>A (RTEL1)
ENST00000692658.1:n.1374G>A (RTEL1)
ENST00000318100.9:c.267G>A (RTEL1)	ENSP00000322287.5:p.Leu89=
ENST00000360203.11:c.936G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Leu312=
ENST00000482936.6:c.936G>A (RTEL1)	ENSP00000457868.2:p.Leu312=
ENST00000318100.8:c.267G>A (RTEL1)	ENSP00000322287.5:p.Leu89=
ENST00000360203.9:c.936G>A (RTEL1)	ENSP00000353332.5:p.Leu312=
ENST00000370018.7:c.936G>A (RTEL1)	ENSP00000359035.3:p.Leu312=
ENST00000482936.5:c.936G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Leu312=
ENST00000492259.6:c.936G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Leu312=
ENST00000508582.6:c.1008G>A (RTEL1)	ENSP00000424307.2:p.Leu336=
NM_001283009.1:c.936G>A (RTEL1)	NP_001269938.1:p.Leu312=
NM_001283010.1:c.267G>A (RTEL1)	NP_001269939.1:p.Leu89=
NM_016434.3:c.936G>A (RTEL1)	NP_057518.1:p.Leu312=
NM_032957.4:c.1008G>A (RTEL1)	NP_116575.3:p.Leu336=
NR_037882.1:n.1763G>A (RTEL1-TNFRSF6B)
NM_001283009.2:c.936G>A (RTEL1) MANE Select	NP_001269938.1:p.Leu312=
NM_016434.4:c.936G>A (RTEL1)	NP_057518.1:p.Leu312=
NM_032957.5:c.1008G>A (RTEL1)	NP_116575.3:p.Leu336=