Canonical Allele Identifier: CA409672046

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• MyVariant Identifiers: chr20:g.62303949T>G (hg19) ; chr20:g.63672596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672596T>G , CM000682.2:g.63672596T>G	GRCh38
NC_000020.10:g.62303949T>G , CM000682.1:g.62303949T>G	GRCh37
NC_000020.9:g.61774393T>G	NCBI36
NG_033901.1:g.19787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.414T>G (RTEL1)
ENST00000425905.6:c.414T>G (RTEL1)
ENST00000508582.7:c.812T>G (RTEL1)	ENSP00000424307.2:p.Val271Gly
ENST00000684971.1:n.1171T>G (RTEL1)
ENST00000686756.1:n.1058T>G (RTEL1)
ENST00000687123.1:n.570T>G (RTEL1)
ENST00000692658.1:n.1178T>G (RTEL1)
ENST00000692911.1:n.1467T>G (RTEL1)
ENST00000318100.9:c.71T>G (RTEL1)	ENSP00000322287.5:p.Val24Gly
ENST00000360203.11:c.740T>G (RTEL1) MANE Select	ENSP00000353332.5:p.Val247Gly
ENST00000482936.6:c.740T>G (RTEL1)	ENSP00000457868.2:p.Val247Gly
ENST00000318100.8:c.71T>G (RTEL1)	ENSP00000322287.5:p.Val24Gly
ENST00000356810.5:c.890T>G (RTEL1)	ENSP00000349265.4:p.Val297Gly
ENST00000360203.9:c.740T>G (RTEL1)	ENSP00000353332.5:p.Val247Gly
ENST00000370018.7:c.740T>G (RTEL1)	ENSP00000359035.3:p.Val247Gly
ENST00000463361.1:n.437T>G (RTEL1)
ENST00000482936.5:c.740T>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Val247Gly
ENST00000492259.6:c.740T>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Val247Gly
ENST00000508582.6:c.812T>G (RTEL1)	ENSP00000424307.2:p.Val271Gly
NM_001283009.1:c.740T>G (RTEL1)	NP_001269938.1:p.Val247Gly
NM_001283010.1:c.71T>G (RTEL1)	NP_001269939.1:p.Val24Gly
NM_016434.3:c.740T>G (RTEL1)	NP_057518.1:p.Val247Gly
NM_032957.4:c.812T>G (RTEL1)	NP_116575.3:p.Val271Gly
NR_037882.1:n.1567T>G (RTEL1-TNFRSF6B)
NM_001283009.2:c.740T>G (RTEL1) MANE Select	NP_001269938.1:p.Val247Gly
NM_016434.4:c.740T>G (RTEL1)	NP_057518.1:p.Val247Gly
NM_032957.5:c.812T>G (RTEL1)	NP_116575.3:p.Val271Gly