Canonical Allele Identifier: CA409672145

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• gnomAD v4: 20-63672619-G-C
• MyVariant Identifiers: chr20:g.62303972G>C (hg19) ; chr20:g.63672619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672619G>C , CM000682.2:g.63672619G>C	GRCh38
NC_000020.10:g.62303972G>C , CM000682.1:g.62303972G>C	GRCh37
NC_000020.9:g.61774416G>C	NCBI36
NG_033901.1:g.19810G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.437G>C (RTEL1)
ENST00000425905.6:c.437G>C (RTEL1)
ENST00000508582.7:c.835G>C (RTEL1)	ENSP00000424307.2:p.Val279Leu
ENST00000684971.1:n.1194G>C (RTEL1)
ENST00000686756.1:n.1081G>C (RTEL1)
ENST00000687123.1:n.593G>C (RTEL1)
ENST00000692658.1:n.1201G>C (RTEL1)
ENST00000692911.1:n.1490G>C (RTEL1)
ENST00000318100.9:c.94G>C (RTEL1)	ENSP00000322287.5:p.Val32Leu
ENST00000360203.11:c.763G>C (RTEL1) MANE Select	ENSP00000353332.5:p.Val255Leu
ENST00000482936.6:c.763G>C (RTEL1)	ENSP00000457868.2:p.Val255Leu
ENST00000318100.8:c.94G>C (RTEL1)	ENSP00000322287.5:p.Val32Leu
ENST00000356810.5:c.913G>C (RTEL1)	ENSP00000349265.4:p.Val305Leu
ENST00000360203.9:c.763G>C (RTEL1)	ENSP00000353332.5:p.Val255Leu
ENST00000370018.7:c.763G>C (RTEL1)	ENSP00000359035.3:p.Val255Leu
ENST00000463361.1:n.460G>C (RTEL1)
ENST00000482936.5:c.763G>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Val255Leu
ENST00000492259.6:c.763G>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Val255Leu
ENST00000508582.6:c.835G>C (RTEL1)	ENSP00000424307.2:p.Val279Leu
NM_001283009.1:c.763G>C (RTEL1)	NP_001269938.1:p.Val255Leu
NM_001283010.1:c.94G>C (RTEL1)	NP_001269939.1:p.Val32Leu
NM_016434.3:c.763G>C (RTEL1)	NP_057518.1:p.Val255Leu
NM_032957.4:c.835G>C (RTEL1)	NP_116575.3:p.Val279Leu
NR_037882.1:n.1590G>C (RTEL1-TNFRSF6B)
NM_001283009.2:c.763G>C (RTEL1) MANE Select	NP_001269938.1:p.Val255Leu
NM_016434.4:c.763G>C (RTEL1)	NP_057518.1:p.Val255Leu
NM_032957.5:c.835G>C (RTEL1)	NP_116575.3:p.Val279Leu