Canonical Allele Identifier: CA9964425

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 1113562
• ClinVar RCV Id: RCV001440981
• dbSNP Id: rs777405867
• ExAC: 20:62303959 C / T
• gnomAD v2: 20-62303959-C-T
• gnomAD v3: 20-63672606-C-T
• gnomAD v4: 20-63672606-C-T
• MyVariant Identifiers: chr20:g.62303959C>T (hg19) ; chr20:g.63672606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63672606C>T , CM000682.2:g.63672606C>T	GRCh38
NC_000020.10:g.62303959C>T , CM000682.1:g.62303959C>T	GRCh37
NC_000020.9:g.61774403C>T	NCBI36
NG_033901.1:g.19797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.424C>T (RTEL1)
ENST00000425905.6:c.424C>T (RTEL1)
ENST00000508582.7:c.822C>T (RTEL1)	ENSP00000424307.2:p.Asp274=
ENST00000684971.1:n.1181C>T (RTEL1)
ENST00000686756.1:n.1068C>T (RTEL1)
ENST00000687123.1:n.580C>T (RTEL1)
ENST00000692658.1:n.1188C>T (RTEL1)
ENST00000692911.1:n.1477C>T (RTEL1)
ENST00000318100.9:c.81C>T (RTEL1)	ENSP00000322287.5:p.Asp27=
ENST00000360203.11:c.750C>T (RTEL1) MANE Select	ENSP00000353332.5:p.Asp250=
ENST00000482936.6:c.750C>T (RTEL1)	ENSP00000457868.2:p.Asp250=
ENST00000318100.8:c.81C>T (RTEL1)	ENSP00000322287.5:p.Asp27=
ENST00000356810.5:c.900C>T (RTEL1)	ENSP00000349265.4:p.Asp300=
ENST00000360203.9:c.750C>T (RTEL1)	ENSP00000353332.5:p.Asp250=
ENST00000370018.7:c.750C>T (RTEL1)	ENSP00000359035.3:p.Asp250=
ENST00000463361.1:n.447C>T (RTEL1)
ENST00000482936.5:c.750C>T (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Asp250=
ENST00000492259.6:c.750C>T (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Asp250=
ENST00000508582.6:c.822C>T (RTEL1)	ENSP00000424307.2:p.Asp274=
NM_001283009.1:c.750C>T (RTEL1)	NP_001269938.1:p.Asp250=
NM_001283010.1:c.81C>T (RTEL1)	NP_001269939.1:p.Asp27=
NM_016434.3:c.750C>T (RTEL1)	NP_057518.1:p.Asp250=
NM_032957.4:c.822C>T (RTEL1)	NP_116575.3:p.Asp274=
NR_037882.1:n.1577C>T (RTEL1-TNFRSF6B)
NM_001283009.2:c.750C>T (RTEL1) MANE Select	NP_001269938.1:p.Asp250=
NM_016434.4:c.750C>T (RTEL1)	NP_057518.1:p.Asp250=
NM_032957.5:c.822C>T (RTEL1)	NP_116575.3:p.Asp274=