Canonical Allele Identifier: CA394565060
Gene: TRAP1 HGNC NCBI
DNASE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506422
ClinVar RCV Id: RCV003235001
gnomAD v4: 16-3662012-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3662012G>A , CM000678.2:g.3662012G>A GRCh38
NC_000016.9:g.3712013G>A , CM000678.1:g.3712013G>A GRCh37
NC_000016.8:g.3652014G>A NCBI36
NG_033088.1:g.60586C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000246957.10:c.1915C>T (TRAP1) MANE Select ENSP00000246957.5:p.Gln639Ter
ENST00000246957.9:c.1915C>T (TRAP1) ENSP00000246957.5:p.Gln639Ter
ENST00000407479.5:c.*4059G>A (DNASE1) ENSP00000385905.1:n.*4059G>A
ENST00000538171.5:c.1756C>T (TRAP1) ENSP00000442070.1:p.Gln586Ter
ENST00000571460.5:c.*417-634G>A (DNASE1) ENSP00000459850.1:n.*417-634G>A
ENST00000574494.1:n.256C>T (TRAP1)
ENST00000575479.1:c.218+4145G>A (DNASE1)
ENST00000575671.5:c.1288C>T (TRAP1) ENSP00000458166.1:p.Gln430Ter
NM_001272049.1:c.1756C>T (TRAP1) NP_001258978.1:p.Gln586Ter
NM_016292.2:c.1915C>T (TRAP1) NP_057376.2:p.Gln639Ter
XM_005255148.2:c.*22-634G>A (DNASE1) XP_005255205.1:n.*22-634G>A
XM_011522345.1:c.1495C>T (TRAP1) XP_011520647.1:p.Gln499Ter
XM_011522345.2:c.1495C>T (TRAP1) XP_011520647.1:p.Gln499Ter
XM_017022992.1:c.802-634G>A (DNASE1) XP_016878481.1:n.802-634G>A
XM_017022993.1:c.802-634G>A (DNASE1) XP_016878482.1:n.802-634G>A
XM_017023000.2:c.727-634G>A (DNASE1) XP_016878489.1:n.727-634G>A
XM_017023001.1:c.595-634G>A (DNASE1) XP_016878490.1:n.595-634G>A
XM_017023002.2:c.595-634G>A (DNASE1) XP_016878491.1:n.595-634G>A
XM_017023003.2:c.451-634G>A (DNASE1) XP_016878492.1:n.451-634G>A
XM_017023004.1:c.451-634G>A (DNASE1) XP_016878493.1:n.451-634G>A
XM_017023005.1:c.451-634G>A (DNASE1) XP_016878494.1:n.451-634G>A
XM_017023006.1:c.451-634G>A (DNASE1) XP_016878495.1:n.451-634G>A
XM_024450169.1:c.802-634G>A (DNASE1) XP_024305937.1:n.802-634G>A
XM_024450170.1:c.*22-634G>A (DNASE1) XP_024305938.1:n.*22-634G>A
NM_016292.3:c.1915C>T (TRAP1) MANE Select NP_057376.2:p.Gln639Ter
NM_001272049.2:c.1756C>T (TRAP1) NP_001258978.1:p.Gln586Ter
NM_001387140.1:c.*22-634G>A (DNASE1) NP_001374069.1:n.*22-634G>A