Canonical Allele Identifier: CA409670602

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63666080G>C , CM000682.2:g.63666080G>C	GRCh38
NC_000020.10:g.62297433G>C , CM000682.1:g.62297433G>C	GRCh37
NC_000020.9:g.61767877G>C	NCBI36
NG_033901.1:g.13271G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.614+1G>C (RTEL1) MANE Select	NP_001269938.1:n.614+1G>C
ENST00000360203.11:c.614+1G>C (RTEL1) MANE Select	ENSP00000353332.5:n.614+1G>C
NM_001283009.1:c.614+1G>C (RTEL1)	NP_001269938.1:n.614+1G>C
NM_001283010.1:c.-56+1G>C (RTEL1)	NP_001269939.1:n.-56+1G>C
NM_016434.3:c.614+1G>C (RTEL1)	NP_057518.1:n.614+1G>C
NM_016434.4:c.614+1G>C (RTEL1)	NP_057518.1:n.614+1G>C
NM_032957.4:c.686+1G>C (RTEL1)	NP_116575.3:n.686+1G>C
NM_032957.5:c.686+1G>C (RTEL1)	NP_116575.3:n.686+1G>C
NR_037882.1:n.1441+1G>C (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-56+1G>C (RTEL1)	ENSP00000322287.5:n.-56+1G>C
ENST00000318100.9:c.-56+1G>C (RTEL1)	ENSP00000322287.5:n.-56+1G>C
ENST00000356810.5:c.764+1G>C (RTEL1)	ENSP00000349265.4:n.764+1G>C
ENST00000360203.9:c.614+1G>C (RTEL1)	ENSP00000353332.5:n.614+1G>C
ENST00000370018.7:c.614+1G>C (RTEL1)	ENSP00000359035.3:n.614+1G>C
ENST00000425905.6:c.288+1G>C (RTEL1)
ENST00000425905.7:n.288+1G>C (RTEL1)
ENST00000463361.1:n.311+1G>C (RTEL1)
ENST00000482936.5:c.614+1G>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.614+1G>C
ENST00000482936.6:c.614+1G>C (RTEL1)	ENSP00000457868.2:n.614+1G>C
ENST00000492259.6:c.614+1G>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.614+1G>C
ENST00000508582.6:c.686+1G>C (RTEL1)	ENSP00000424307.2:n.686+1G>C
ENST00000508582.7:c.686+1G>C (RTEL1)	ENSP00000424307.2:n.686+1G>C
ENST00000684971.1:n.1045+1G>C (RTEL1)
ENST00000686756.1:n.932+1G>C (RTEL1)
ENST00000687123.1:n.444+1G>C (RTEL1)
ENST00000692658.1:n.1052+1G>C (RTEL1)
ENST00000692911.1:n.1341+1G>C (RTEL1)