Canonical Allele Identifier: CA511371617

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 1110381
• ClinVar RCV Id: RCV001436579
• dbSNP Id: rs2146193395
• gnomAD v4: 20-63672612-T-C
• MyVariant Identifiers: chr20:g.62303965T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672612T>C , CM000682.2:g.63672612T>C	GRCh38
NC_000020.10:g.62303965T>C , CM000682.1:g.62303965T>C	GRCh37
NC_000020.9:g.61774409T>C	NCBI36
NG_033901.1:g.19803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.430T>C (RTEL1)
ENST00000425905.6:c.430T>C (RTEL1)
ENST00000508582.7:c.828T>C (RTEL1)	ENSP00000424307.2:p.Ala276=
ENST00000684971.1:n.1187T>C (RTEL1)
ENST00000686756.1:n.1074T>C (RTEL1)
ENST00000687123.1:n.586T>C (RTEL1)
ENST00000692658.1:n.1194T>C (RTEL1)
ENST00000692911.1:n.1483T>C (RTEL1)
ENST00000318100.9:c.87T>C (RTEL1)	ENSP00000322287.5:p.Ala29=
ENST00000360203.11:c.756T>C (RTEL1) MANE Select	ENSP00000353332.5:p.Ala252=
ENST00000482936.6:c.756T>C (RTEL1)	ENSP00000457868.2:p.Ala252=
ENST00000318100.8:c.87T>C (RTEL1)	ENSP00000322287.5:p.Ala29=
ENST00000356810.5:c.906T>C (RTEL1)	ENSP00000349265.4:p.Ala302=
ENST00000360203.9:c.756T>C (RTEL1)	ENSP00000353332.5:p.Ala252=
ENST00000370018.7:c.756T>C (RTEL1)	ENSP00000359035.3:p.Ala252=
ENST00000463361.1:n.453T>C (RTEL1)
ENST00000482936.5:c.756T>C (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ala252=
ENST00000492259.6:c.756T>C (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Ala252=
ENST00000508582.6:c.828T>C (RTEL1)	ENSP00000424307.2:p.Ala276=
NM_001283009.1:c.756T>C (RTEL1)	NP_001269938.1:p.Ala252=
NM_001283010.1:c.87T>C (RTEL1)	NP_001269939.1:p.Ala29=
NM_016434.3:c.756T>C (RTEL1)	NP_057518.1:p.Ala252=
NM_032957.4:c.828T>C (RTEL1)	NP_116575.3:p.Ala276=
NR_037882.1:n.1583T>C (RTEL1-TNFRSF6B)
NM_001283009.2:c.756T>C (RTEL1) MANE Select	NP_001269938.1:p.Ala252=
NM_016434.4:c.756T>C (RTEL1)	NP_057518.1:p.Ala252=
NM_032957.5:c.828T>C (RTEL1)	NP_116575.3:p.Ala276=