Canonical Allele Identifier: CA7867631

Gene: TRAP1 DNASE1

Linked Data

• ClinVar Variation Id: 418524
• ClinVar RCV Id: RCV000676233 ; RCV002466514 ; RCV003925399
• dbSNP Id: rs61756352
• ExAC: 16:3708192 C / T
• gnomAD v2: 16-3708192-C-T
• gnomAD v3: 16-3658191-C-T
• gnomAD v4: 16-3658191-C-T
• MyVariant Identifiers: chr16:g.3708192C>T (hg19) ; chr16:g.3658191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3658191C>T , CM000678.2:g.3658191C>T	GRCh38
NC_000016.9:g.3708192C>T , CM000678.1:g.3708192C>T	GRCh37
NC_000016.8:g.3648193C>T	NCBI36
NG_009285.1:g.10253C>T
NG_033088.1:g.64407G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246957.10:c.2053G>A (TRAP1) MANE Select	ENSP00000246957.5:p.Asp685Asn
ENST00000246957.9:c.2053G>A (TRAP1)	ENSP00000246957.5:p.Asp685Asn
ENST00000407479.5:c.*238C>T (DNASE1)	ENSP00000385905.1:n.*238C>T
ENST00000538171.5:c.1894G>A (TRAP1)	ENSP00000442070.1:p.Asp632Asn
ENST00000571460.5:c.*416+375C>T (DNASE1)	ENSP00000459850.1:n.*416+375C>T
ENST00000574494.1:n.394G>A (TRAP1)
ENST00000575479.1:c.218+324C>T (DNASE1)
ENST00000575671.5:c.1426G>A (TRAP1)	ENSP00000458166.1:p.Asp476Asn
ENST00000575707.5:c.117G>A (TRAP1)
ENST00000576792.1:c.564C>T (DNASE1)	ENSP00000461129.1:n.564C>T
NM_001272049.1:c.1894G>A (TRAP1)	NP_001258978.1:p.Asp632Asn
NM_016292.2:c.2053G>A (TRAP1)	NP_057376.2:p.Asp685Asn
XM_005255148.2:c.*21+324C>T (DNASE1)	XP_005255205.1:n.*21+324C>T
XM_011522345.1:c.1633G>A (TRAP1)	XP_011520647.1:p.Asp545Asn
XM_011522345.2:c.1633G>A (TRAP1)	XP_011520647.1:p.Asp545Asn
XM_017022992.1:c.801+375C>T (DNASE1)	XP_016878481.1:n.801+375C>T
XM_017022993.1:c.801+375C>T (DNASE1)	XP_016878482.1:n.801+375C>T
XM_017023000.2:c.726+375C>T (DNASE1)	XP_016878489.1:n.726+375C>T
XM_017023001.1:c.594+375C>T (DNASE1)	XP_016878490.1:n.594+375C>T
XM_017023002.2:c.594+375C>T (DNASE1)	XP_016878491.1:n.594+375C>T
XM_017023003.2:c.450+375C>T (DNASE1)	XP_016878492.1:n.450+375C>T
XM_017023004.1:c.450+375C>T (DNASE1)	XP_016878493.1:n.450+375C>T
XM_017023005.1:c.450+375C>T (DNASE1)	XP_016878494.1:n.450+375C>T
XM_017023006.1:c.450+375C>T (DNASE1)	XP_016878495.1:n.450+375C>T
XM_024450169.1:c.801+375C>T (DNASE1)	XP_024305937.1:n.801+375C>T
XM_024450170.1:c.*21+324C>T (DNASE1)	XP_024305938.1:n.*21+324C>T
NM_016292.3:c.2053G>A (TRAP1) MANE Select	NP_057376.2:p.Asp685Asn
NM_001272049.2:c.1894G>A (TRAP1)	NP_001258978.1:p.Asp632Asn
NM_001387140.1:c.*21+324C>T (DNASE1)	NP_001374069.1:n.*21+324C>T