Canonical Allele Identifier: CA409670715

Gene: RTEL1 RTEL1-TNFRSF6B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63667518A>G , CM000682.2:g.63667518A>G	GRCh38
NC_000020.10:g.62298871A>G , CM000682.1:g.62298871A>G	GRCh37
NC_000020.9:g.61769315A>G	NCBI36
NG_033901.1:g.14709A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001283009.2:c.664A>G (RTEL1) MANE Select	NP_001269938.1:p.Ile222Val
ENST00000360203.11:c.664A>G (RTEL1) MANE Select	ENSP00000353332.5:p.Ile222Val
NM_001283009.1:c.664A>G (RTEL1)	NP_001269938.1:p.Ile222Val
NM_001283010.1:c.-6A>G (RTEL1)	NP_001269939.1:n.-6A>G
NM_016434.3:c.664A>G (RTEL1)	NP_057518.1:p.Ile222Val
NM_016434.4:c.664A>G (RTEL1)	NP_057518.1:p.Ile222Val
NM_032957.4:c.736A>G (RTEL1)	NP_116575.3:p.Ile246Val
NM_032957.5:c.736A>G (RTEL1)	NP_116575.3:p.Ile246Val
NR_037882.1:n.1491A>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.-6A>G (RTEL1)	ENSP00000322287.5:n.-6A>G
ENST00000318100.9:c.-6A>G (RTEL1)	ENSP00000322287.5:n.-6A>G
ENST00000356810.5:c.814A>G (RTEL1)	ENSP00000349265.4:p.Ile272Val
ENST00000360203.9:c.664A>G (RTEL1)	ENSP00000353332.5:p.Ile222Val
ENST00000370018.7:c.664A>G (RTEL1)	ENSP00000359035.3:p.Ile222Val
ENST00000425905.6:c.338A>G (RTEL1)
ENST00000425905.7:n.338A>G (RTEL1)
ENST00000463361.1:n.361A>G (RTEL1)
ENST00000482936.5:c.664A>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ile222Val
ENST00000482936.6:c.664A>G (RTEL1)	ENSP00000457868.2:p.Ile222Val
ENST00000492259.6:c.664A>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Ile222Val
ENST00000508582.6:c.736A>G (RTEL1)	ENSP00000424307.2:p.Ile246Val
ENST00000508582.7:c.736A>G (RTEL1)	ENSP00000424307.2:p.Ile246Val
ENST00000684971.1:n.1095A>G (RTEL1)
ENST00000686756.1:n.982A>G (RTEL1)
ENST00000687123.1:n.494A>G (RTEL1)
ENST00000692658.1:n.1102A>G (RTEL1)
ENST00000692911.1:n.1391A>G (RTEL1)