Canonical Allele Identifier: CA9966233

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63695826G>A , CM000682.2:g.63695826G>A	GRCh38
NC_000020.10:g.62327179G>A , CM000682.1:g.62327179G>A	GRCh37
NC_000020.9:g.61797623G>A	NCBI36
NG_033901.1:g.43017G>A
NG_046961.1:g.4176G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.3871G>A (RTEL1) MANE Select	NP_001269938.1:p.Val1291Ile
ENST00000360203.11:c.3871G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Val1291Ile
NM_001283009.1:c.3871G>A (RTEL1)	NP_001269938.1:p.Val1291Ile
NM_001283010.1:c.*41G>A (RTEL1)	NP_001269939.1:n.*41G>A
NM_016434.3:c.*41G>A (RTEL1)	NP_057518.1:n.*41G>A
NM_016434.4:c.*41G>A (RTEL1)	NP_057518.1:n.*41G>A
NM_032957.4:c.*41G>A (RTEL1)	NP_116575.3:n.*41G>A
NM_032957.5:c.*41G>A (RTEL1)	NP_116575.3:n.*41G>A
NR_037882.1:n.4698G>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.*41G>A (RTEL1)	ENSP00000322287.5:n.*41G>A
ENST00000318100.9:c.*41G>A (RTEL1)	ENSP00000322287.5:n.*41G>A
ENST00000360203.9:c.3871G>A (RTEL1)	ENSP00000353332.5:p.Val1291Ile
ENST00000370003.2:c.1606G>A (RTEL1)	ENSP00000359020.1:p.Val536Ile
ENST00000370018.7:c.*41G>A (RTEL1)	ENSP00000359035.3:n.*41G>A
ENST00000480273.5:n.3786G>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3871G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Val1291Ile
ENST00000492259.6:c.*1303G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*1303G>A
ENST00000496281.1:n.3353G>A (RTEL1-TNFRSF6B)
ENST00000496281.2:n.3882G>A (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1803G>A (RTEL1)	ENSP00000425576.1:n.1803G>A
ENST00000508582.6:c.*41G>A (RTEL1)	ENSP00000424307.2:n.*41G>A
ENST00000508582.7:c.*41G>A (RTEL1)	ENSP00000424307.2:n.*41G>A
ENST00000697815.1:n.2618G>A (RTEL1-TNFRSF6B)