Canonical Allele Identifier: CA9964474

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63674064C>T , CM000682.2:g.63674064C>T	GRCh38
NC_000020.10:g.62305417C>T , CM000682.1:g.62305417C>T	GRCh37
NC_000020.9:g.61775861C>T	NCBI36
NG_033901.1:g.21255C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.890C>T (RTEL1) MANE Select	NP_001269938.1:p.Pro297Leu
ENST00000360203.11:c.890C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Pro297Leu
NM_001283009.1:c.890C>T (RTEL1)	NP_001269938.1:p.Pro297Leu
NM_001283010.1:c.221C>T (RTEL1)	NP_001269939.1:p.Pro74Leu
NM_016434.3:c.890C>T (RTEL1)	NP_057518.1:p.Pro297Leu
NM_016434.4:c.890C>T (RTEL1)	NP_057518.1:p.Pro297Leu
NM_032957.4:c.962C>T (RTEL1)	NP_116575.3:p.Pro321Leu
NM_032957.5:c.962C>T (RTEL1)	NP_116575.3:p.Pro321Leu
NR_037882.1:n.1717C>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.221C>T (RTEL1)	ENSP00000322287.5:p.Pro74Leu
ENST00000318100.9:c.221C>T (RTEL1)	ENSP00000322287.5:p.Pro74Leu
ENST00000356810.5:c.1040C>T (RTEL1)	ENSP00000349265.4:p.Pro347Leu
ENST00000360203.9:c.890C>T (RTEL1)	ENSP00000353332.5:p.Pro297Leu
ENST00000370018.7:c.890C>T (RTEL1)	ENSP00000359035.3:p.Pro297Leu
ENST00000425905.6:c.564C>T (RTEL1)
ENST00000425905.7:n.564C>T (RTEL1)
ENST00000482936.5:c.890C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Pro297Leu
ENST00000482936.6:c.890C>T (RTEL1)	ENSP00000457868.2:p.Pro297Leu
ENST00000492259.6:c.890C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Pro297Leu
ENST00000508582.6:c.962C>T (RTEL1)	ENSP00000424307.2:p.Pro321Leu
ENST00000508582.7:c.962C>T (RTEL1)	ENSP00000424307.2:p.Pro321Leu
ENST00000684971.1:n.1321C>T (RTEL1)
ENST00000686756.1:n.1208C>T (RTEL1)
ENST00000687123.1:n.720C>T (RTEL1)
ENST00000692658.1:n.1328C>T (RTEL1)
ENST00000692911.1:n.1617C>T (RTEL1)