Canonical Allele Identifier: CA636615357

Gene: RTEL1-TNFRSF6B RTEL1

Linked Data

• dbSNP Id: rs1296706541
• gnomAD v2: 20-62327044-C-G
• gnomAD v4: 20-63695691-C-G
• MyVariant Identifiers: chr20:g.62327044C>G (hg19) ; chr20:g.63695691C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63695691C>G , CM000682.2:g.63695691C>G	GRCh38
NC_000020.10:g.62327044C>G , CM000682.1:g.62327044C>G	GRCh37
NC_000020.9:g.61797488C>G	NCBI36
NG_033901.1:g.42882C>G
NG_046961.1:g.4041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697815.1:n.2569+41C>G (RTEL1-TNFRSF6B)
ENST00000508582.7:c.3725-87C>G (RTEL1)	ENSP00000424307.2:n.3725-87C>G
ENST00000318100.9:c.2984-87C>G (RTEL1)	ENSP00000322287.5:n.2984-87C>G
ENST00000360203.11:c.3822+41C>G (RTEL1) MANE Select	ENSP00000353332.5:n.3822+41C>G
ENST00000496281.2:n.3833+41C>G (RTEL1-TNFRSF6B)
ENST00000318100.8:c.2984-87C>G (RTEL1)	ENSP00000322287.5:n.2984-87C>G
ENST00000360203.9:c.3822+41C>G (RTEL1)	ENSP00000353332.5:n.3822+41C>G
ENST00000370003.2:c.1557+41C>G (RTEL1)	ENSP00000359020.1:n.1557+41C>G
ENST00000370018.7:c.3653-87C>G (RTEL1)	ENSP00000359035.3:n.3653-87C>G
ENST00000480273.5:n.3738-87C>G (RTEL1-TNFRSF6B)
ENST00000482936.5:c.3822+41C>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:n.3822+41C>G
ENST00000492259.6:c.*1255-87C>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:n.*1255-87C>G
ENST00000496281.1:n.3304+41C>G (RTEL1-TNFRSF6B)
ENST00000496816.5:c.1754+41C>G (RTEL1)	ENSP00000425576.1:n.1754+41C>G
ENST00000508582.6:c.3725-87C>G (RTEL1)	ENSP00000424307.2:n.3725-87C>G
NM_001283009.1:c.3822+41C>G (RTEL1)	NP_001269938.1:n.3822+41C>G
NM_001283010.1:c.2984-87C>G (RTEL1)	NP_001269939.1:n.2984-87C>G
NM_016434.3:c.3653-87C>G (RTEL1)	NP_057518.1:n.3653-87C>G
NM_032957.4:c.3725-87C>G (RTEL1)	NP_116575.3:n.3725-87C>G
NR_037882.1:n.4649+41C>G (RTEL1-TNFRSF6B)
NM_001283009.2:c.3822+41C>G (RTEL1) MANE Select	NP_001269938.1:n.3822+41C>G
NM_016434.4:c.3653-87C>G (RTEL1)	NP_057518.1:n.3653-87C>G
NM_032957.5:c.3725-87C>G (RTEL1)	NP_116575.3:n.3725-87C>G