Canonical Allele Identifier: CA409658268

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63661497G>A , CM000682.2:g.63661497G>A	GRCh38
NC_000020.10:g.62292850G>A , CM000682.1:g.62292850G>A	GRCh37
NC_000020.9:g.61763294G>A	NCBI36
NG_033901.1:g.8688G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.301+1G>A (RTEL1) MANE Select	NP_001269938.1:n.301+1G>A
ENST00000360203.11:c.301+1G>A (RTEL1) MANE Select	ENSP00000353332.5:n.301+1G>A
NM_001283009.1:c.301+1G>A (RTEL1)	NP_001269938.1:n.301+1G>A
NM_001283010.1:c.-369+1G>A (RTEL1)	NP_001269939.1:n.-369+1G>A
NM_016434.3:c.301+1G>A (RTEL1)	NP_057518.1:n.301+1G>A
NM_016434.4:c.301+1G>A (RTEL1)	NP_057518.1:n.301+1G>A
NM_032957.4:c.301+1G>A (RTEL1)	NP_116575.3:n.301+1G>A
NM_032957.5:c.301+1G>A (RTEL1)	NP_116575.3:n.301+1G>A
NR_037882.1:n.1128+1G>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-369+1G>A (RTEL1)	ENSP00000322287.5:n.-369+1G>A
ENST00000318100.9:c.-369+1G>A (RTEL1)	ENSP00000322287.5:n.-369+1G>A
ENST00000356810.5:c.301+1G>A (RTEL1)	ENSP00000349265.4:n.301+1G>A
ENST00000360203.9:c.301+1G>A (RTEL1)	ENSP00000353332.5:n.301+1G>A
ENST00000370018.7:c.301+1G>A (RTEL1)	ENSP00000359035.3:n.301+1G>A
ENST00000482936.5:c.301+1G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.301+1G>A
ENST00000482936.6:c.301+1G>A (RTEL1)	ENSP00000457868.2:n.301+1G>A
ENST00000488316.1:n.555+1G>A (RTEL1)
ENST00000488316.2:n.571+1G>A (RTEL1)
ENST00000492259.6:c.301+1G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.301+1G>A
ENST00000508582.6:c.301+1G>A (RTEL1)	ENSP00000424307.2:n.301+1G>A
ENST00000508582.7:c.301+1G>A (RTEL1)	ENSP00000424307.2:n.301+1G>A
ENST00000684971.1:n.626+1G>A (RTEL1)
ENST00000686756.1:n.619+1G>A (RTEL1)
ENST00000687123.1:n.25+1G>A (RTEL1)
ENST00000692658.1:n.633+1G>A (RTEL1)
ENST00000692911.1:n.1028+1G>A (RTEL1)