Canonical Allele Identifier: CA9965664

Gene: RTEL1-TNFRSF6B RTEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63693227G>A , CM000682.2:g.63693227G>A	GRCh38
NC_000020.10:g.62324580G>A , CM000682.1:g.62324580G>A	GRCh37
NC_000020.9:g.61795024G>A	NCBI36
NG_033901.1:g.40418G>A
NG_046961.1:g.1577G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.2936G>A (RTEL1) MANE Select	NP_001269938.1:p.Arg979Gln
ENST00000360203.11:c.2936G>A (RTEL1) MANE Select	ENSP00000353332.5:p.Arg979Gln
NM_001283009.1:c.2936G>A (RTEL1)	NP_001269938.1:p.Arg979Gln
NM_001283010.1:c.2267G>A (RTEL1)	NP_001269939.1:p.Arg756Gln
NM_016434.3:c.2936G>A (RTEL1)	NP_057518.1:p.Arg979Gln
NM_016434.4:c.2936G>A (RTEL1)	NP_057518.1:p.Arg979Gln
NM_032957.4:c.3008G>A (RTEL1)	NP_116575.3:p.Arg1003Gln
NM_032957.5:c.3008G>A (RTEL1)	NP_116575.3:p.Arg1003Gln
NR_037882.1:n.3763G>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2267G>A (RTEL1)	ENSP00000322287.5:p.Arg756Gln
ENST00000318100.9:c.2267G>A (RTEL1)	ENSP00000322287.5:p.Arg756Gln
ENST00000360203.9:c.2936G>A (RTEL1)	ENSP00000353332.5:p.Arg979Gln
ENST00000370003.2:c.671G>A (RTEL1)	ENSP00000359020.1:p.Arg224Gln
ENST00000370018.7:c.2936G>A (RTEL1)	ENSP00000359035.3:p.Arg979Gln
ENST00000480273.5:n.3021G>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2936G>A (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Arg979Gln
ENST00000482936.6:c.2936G>A (RTEL1)	ENSP00000457868.2:p.Arg979Gln
ENST00000492259.6:c.*538G>A (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*538G>A
ENST00000496281.1:n.2418G>A (RTEL1-TNFRSF6B)
ENST00000496281.2:n.2947G>A (RTEL1-TNFRSF6B)
ENST00000496816.5:c.815G>A (RTEL1)	ENSP00000425576.1:p.Arg272Gln
ENST00000508582.6:c.3008G>A (RTEL1)	ENSP00000424307.2:p.Arg1003Gln
ENST00000508582.7:c.3008G>A (RTEL1)	ENSP00000424307.2:p.Arg1003Gln
ENST00000697815.1:n.1683G>A (RTEL1-TNFRSF6B)