Canonical Allele Identifier: CA409673130

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63674094G>T , CM000682.2:g.63674094G>T	GRCh38
NC_000020.10:g.62305447G>T , CM000682.1:g.62305447G>T	GRCh37
NC_000020.9:g.61775891G>T	NCBI36
NG_033901.1:g.21285G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.919+1G>T (RTEL1) MANE Select	NP_001269938.1:n.919+1G>T
ENST00000360203.11:c.919+1G>T (RTEL1) MANE Select	ENSP00000353332.5:n.919+1G>T
NM_001283009.1:c.919+1G>T (RTEL1)	NP_001269938.1:n.919+1G>T
NM_001283010.1:c.250+1G>T (RTEL1)	NP_001269939.1:n.250+1G>T
NM_016434.3:c.919+1G>T (RTEL1)	NP_057518.1:n.919+1G>T
NM_016434.4:c.919+1G>T (RTEL1)	NP_057518.1:n.919+1G>T
NM_032957.4:c.991+1G>T (RTEL1)	NP_116575.3:n.991+1G>T
NM_032957.5:c.991+1G>T (RTEL1)	NP_116575.3:n.991+1G>T
NR_037882.1:n.1746+1G>T (RTEL1-TNFRSF6B)
ENST00000318100.8:c.250+1G>T (RTEL1)	ENSP00000322287.5:n.250+1G>T
ENST00000318100.9:c.250+1G>T (RTEL1)	ENSP00000322287.5:n.250+1G>T
ENST00000360203.9:c.919+1G>T (RTEL1)	ENSP00000353332.5:n.919+1G>T
ENST00000370018.7:c.919+1G>T (RTEL1)	ENSP00000359035.3:n.919+1G>T
ENST00000425905.6:c.593+1G>T (RTEL1)
ENST00000425905.7:n.593+1G>T (RTEL1)
ENST00000482936.5:c.919+1G>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.919+1G>T
ENST00000482936.6:c.919+1G>T (RTEL1)	ENSP00000457868.2:n.919+1G>T
ENST00000492259.6:c.919+1G>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.919+1G>T
ENST00000508582.6:c.991+1G>T (RTEL1)	ENSP00000424307.2:n.991+1G>T
ENST00000508582.7:c.991+1G>T (RTEL1)	ENSP00000424307.2:n.991+1G>T
ENST00000684971.1:n.1350+1G>T (RTEL1)
ENST00000686756.1:n.1237+1G>T (RTEL1)
ENST00000687123.1:n.749+1G>T (RTEL1)
ENST00000692658.1:n.1357+1G>T (RTEL1)
ENST00000692911.1:n.1647G>T (RTEL1)