Canonical Allele Identifier: CA7867918
Gene: TRAP1 HGNC NCBI
DNASE1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3662966G>A , CM000678.2:g.3662966G>A GRCh38
NC_000016.9:g.3712967G>A , CM000678.1:g.3712967G>A GRCh37
NC_000016.8:g.3652968G>A NCBI36
NG_033088.1:g.59632C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000246957.10:c.1710C>T (TRAP1) MANE Select ENSP00000246957.5:p.Ala570=
ENST00000246957.9:c.1710C>T (TRAP1) ENSP00000246957.5:p.Ala570=
ENST00000407479.5:c.*5013G>A (DNASE1) ENSP00000385905.1:n.*5013G>A
ENST00000538171.5:c.1551C>T (TRAP1) ENSP00000442070.1:p.Ala517=
ENST00000571460.5:c.*575+162G>A (DNASE1) ENSP00000459850.1:n.*575+162G>A
ENST00000575479.1:c.218+5099G>A (DNASE1)
ENST00000575671.5:c.1083C>T (TRAP1) ENSP00000458166.1:p.Ala361=
NM_001272049.1:c.1551C>T (TRAP1) NP_001258978.1:p.Ala517=
NM_016292.2:c.1710C>T (TRAP1) NP_057376.2:p.Ala570=
XM_011522345.1:c.1290C>T (TRAP1) XP_011520647.1:p.Ala430=
XM_011522345.2:c.1290C>T (TRAP1) XP_011520647.1:p.Ala430=
XM_017022992.1:c.*207G>A (DNASE1) XP_016878481.1:n.*207G>A
XM_017022993.1:c.*207G>A (DNASE1) XP_016878482.1:n.*207G>A
XM_017023000.2:c.*207G>A (DNASE1) XP_016878489.1:n.*207G>A
XM_017023001.1:c.*207G>A (DNASE1) XP_016878490.1:n.*207G>A
XM_017023002.2:c.*207G>A (DNASE1) XP_016878491.1:n.*207G>A
XM_017023003.2:c.*207G>A (DNASE1) XP_016878492.1:n.*207G>A
XM_017023004.1:c.*207G>A (DNASE1) XP_016878493.1:n.*207G>A
XM_017023005.1:c.*207G>A (DNASE1) XP_016878494.1:n.*207G>A
XM_017023006.1:c.*207G>A (DNASE1) XP_016878495.1:n.*207G>A
XM_024450169.1:c.*207G>A (DNASE1) XP_024305937.1:n.*207G>A
NM_016292.3:c.1710C>T (TRAP1) MANE Select NP_057376.2:p.Ala570=
NM_001272049.2:c.1551C>T (TRAP1) NP_001258978.1:p.Ala517=
NM_001387140.1:c.*342G>A (DNASE1) NP_001374069.1:n.*342G>A