Canonical Allele Identifier: CA409682766
Community Standard Title: NM_001283009.2(RTEL1):c.2653-1G>A
Gene: RTEL1-TNFRSF6B HGNC NCBI
RTEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63692804G>A , CM000682.2:g.63692804G>A GRCh38
NC_000020.10:g.62324157G>A , CM000682.1:g.62324157G>A GRCh37
NC_000020.9:g.61794601G>A NCBI36
NG_033901.1:g.39995G>A
NG_046961.1:g.1154G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001283009.2:c.2653-1G>A (RTEL1) MANE Select NP_001269938.1:n.2653-1G>A
ENST00000360203.11:c.2653-1G>A (RTEL1) MANE Select ENSP00000353332.5:n.2653-1G>A
NM_001283009.1:c.2653-1G>A (RTEL1) NP_001269938.1:n.2653-1G>A
NM_001283010.1:c.1984-1G>A (RTEL1) NP_001269939.1:n.1984-1G>A
NM_016434.3:c.2653-1G>A (RTEL1) NP_057518.1:n.2653-1G>A
NM_016434.4:c.2653-1G>A (RTEL1) NP_057518.1:n.2653-1G>A
NM_032957.4:c.2725-1G>A (RTEL1) NP_116575.3:n.2725-1G>A
NM_032957.5:c.2725-1G>A (RTEL1) NP_116575.3:n.2725-1G>A
NR_037882.1:n.3480-1G>A (RTEL1-TNFRSF6B)
ENST00000318100.8:c.1984-1G>A (RTEL1) ENSP00000322287.5:n.1984-1G>A
ENST00000318100.9:c.1984-1G>A (RTEL1) ENSP00000322287.5:n.1984-1G>A
ENST00000360203.9:c.2653-1G>A (RTEL1) ENSP00000353332.5:n.2653-1G>A
ENST00000370003.2:c.388-1G>A (RTEL1) ENSP00000359020.1:n.388-1G>A
ENST00000370018.7:c.2653-1G>A (RTEL1) ENSP00000359035.3:n.2653-1G>A
ENST00000480273.5:n.2738-1G>A (RTEL1-TNFRSF6B)
ENST00000482936.5:c.2653-1G>A (RTEL1-TNFRSF6B) ENSP00000457868.1:n.2653-1G>A
ENST00000482936.6:c.2653-1G>A (RTEL1) ENSP00000457868.2:n.2653-1G>A
ENST00000492259.6:c.*255-1G>A (RTEL1-TNFRSF6B) ENSP00000457428.1:n.*255-1G>A
ENST00000496281.1:n.2134G>A (RTEL1-TNFRSF6B)
ENST00000496281.2:n.2663G>A (RTEL1-TNFRSF6B)
ENST00000496816.5:c.532-1G>A (RTEL1) ENSP00000425576.1:n.532-1G>A
ENST00000508582.6:c.2725-1G>A (RTEL1) ENSP00000424307.2:n.2725-1G>A
ENST00000508582.7:c.2725-1G>A (RTEL1) ENSP00000424307.2:n.2725-1G>A
ENST00000697815.1:n.1399G>A (RTEL1-TNFRSF6B)