Canonical Allele Identifier: CA9964466

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63674043C>T , CM000682.2:g.63674043C>T	GRCh38
NC_000020.10:g.62305396C>T , CM000682.1:g.62305396C>T	GRCh37
NC_000020.9:g.61775840C>T	NCBI36
NG_033901.1:g.21234C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.869C>T (RTEL1) MANE Select	NP_001269938.1:p.Ala290Val
ENST00000360203.11:c.869C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Ala290Val
NM_001283009.1:c.869C>T (RTEL1)	NP_001269938.1:p.Ala290Val
NM_001283010.1:c.200C>T (RTEL1)	NP_001269939.1:p.Ala67Val
NM_016434.3:c.869C>T (RTEL1)	NP_057518.1:p.Ala290Val
NM_016434.4:c.869C>T (RTEL1)	NP_057518.1:p.Ala290Val
NM_032957.4:c.941C>T (RTEL1)	NP_116575.3:p.Ala314Val
NM_032957.5:c.941C>T (RTEL1)	NP_116575.3:p.Ala314Val
NR_037882.1:n.1696C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.200C>T (RTEL1)	ENSP00000322287.5:p.Ala67Val
ENST00000318100.9:c.200C>T (RTEL1)	ENSP00000322287.5:p.Ala67Val
ENST00000356810.5:c.1019C>T (RTEL1)	ENSP00000349265.4:p.Ala340Val
ENST00000360203.9:c.869C>T (RTEL1)	ENSP00000353332.5:p.Ala290Val
ENST00000370018.7:c.869C>T (RTEL1)	ENSP00000359035.3:p.Ala290Val
ENST00000425905.6:c.543C>T (RTEL1)
ENST00000425905.7:n.543C>T (RTEL1)
ENST00000463361.1:n.566C>T (RTEL1)
ENST00000482936.5:c.869C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ala290Val
ENST00000482936.6:c.869C>T (RTEL1)	ENSP00000457868.2:p.Ala290Val
ENST00000492259.6:c.869C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Ala290Val
ENST00000508582.6:c.941C>T (RTEL1)	ENSP00000424307.2:p.Ala314Val
ENST00000508582.7:c.941C>T (RTEL1)	ENSP00000424307.2:p.Ala314Val
ENST00000684971.1:n.1300C>T (RTEL1)
ENST00000686756.1:n.1187C>T (RTEL1)
ENST00000687123.1:n.699C>T (RTEL1)
ENST00000692658.1:n.1307C>T (RTEL1)
ENST00000692911.1:n.1596C>T (RTEL1)