Canonical Allele Identifier: CA7867483

Gene: DNASE1 TRAP1

Linked Data

• dbSNP Id: rs1053874
• ExAC: 16:3707747 G / T
• gnomAD v2: 16-3707747-G-T
• gnomAD v3: 16-3657746-G-T
• gnomAD v4: 16-3657746-G-T
• MyVariant Identifiers: chr16:g.3707747G>T (hg19) ; chr16:g.3657746G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3657746G>T , CM000678.2:g.3657746G>T	GRCh38
NC_000016.9:g.3707747G>T , CM000678.1:g.3707747G>T	GRCh37
NC_000016.8:g.3647748G>T	NCBI36
NG_009285.1:g.9808G>T
NG_033088.1:g.64852C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000246949.10:c.731G>T (DNASE1) MANE Select	ENSP00000246949.5:p.Arg244Leu
ENST00000246949.9:c.731G>T (DNASE1)	ENSP00000246949.5:p.Arg244Leu
ENST00000407479.5:c.731G>T (DNASE1)	ENSP00000385905.1:p.Arg244Leu
ENST00000570664.1:c.312-44G>T (DNASE1)	ENSP00000459507.1:n.312-44G>T
ENST00000570769.5:c.*574G>T (DNASE1)	ENSP00000458467.1:n.*574G>T
ENST00000570807.5:c.513G>T (DNASE1)
ENST00000571460.5:c.*346G>T (DNASE1)	ENSP00000459850.1:n.*346G>T
ENST00000572237.1:c.430G>T (DNASE1)
ENST00000575479.1:c.97G>T (DNASE1)
ENST00000575707.5:c.255+307C>A (TRAP1)
ENST00000576050.5:c.*459G>T (DNASE1)	ENSP00000461745.1:n.*459G>T
ENST00000576792.1:c.119G>T (DNASE1)	ENSP00000461129.1:p.Arg40Leu
NM_005223.3:c.731G>T (DNASE1)	NP_005214.2:p.Arg244Leu
XM_005255148.2:c.731G>T (DNASE1)	XP_005255205.1:p.Arg244Leu
XM_005255149.2:c.524G>T (DNASE1)	XP_005255206.1:p.Arg175Leu
XM_006720854.2:c.524G>T (DNASE1)	XP_006720917.1:p.Arg175Leu
XM_011522393.1:c.731G>T (DNASE1)	XP_011520695.1:p.Arg244Leu
XM_011522394.1:c.731G>T (DNASE1)	XP_011520696.1:p.Arg244Leu
XM_011522395.1:c.656G>T (DNASE1)	XP_011520697.1:p.Arg219Leu
XM_011522396.1:c.*63G>T (DNASE1)	XP_011520698.1:n.*63G>T
XM_011522397.1:c.380G>T (DNASE1)	XP_011520699.1:p.Arg127Leu
XM_011522398.1:c.380G>T (DNASE1)	XP_011520700.1:p.Arg127Leu
XR_243264.1:n.1692G>T (DNASE1)
XR_932790.1:n.1569G>T (DNASE1)
XR_933026.1:n.22C>A
NM_001351825.1:c.731G>T (DNASE1)	NP_001338754.1:p.Arg244Leu
XM_006720854.3:c.524G>T (DNASE1)	XP_006720917.1:p.Arg175Leu
XM_011522393.2:c.731G>T (DNASE1)	XP_011520695.1:p.Arg244Leu
XM_017022992.1:c.731G>T (DNASE1)	XP_016878481.1:p.Arg244Leu
XM_017022993.1:c.731G>T (DNASE1)	XP_016878482.1:p.Arg244Leu
XM_017023000.2:c.656G>T (DNASE1)	XP_016878489.1:p.Arg219Leu
XM_017023001.1:c.524G>T (DNASE1)	XP_016878490.1:p.Arg175Leu
XM_017023002.2:c.524G>T (DNASE1)	XP_016878491.1:p.Arg175Leu
XM_017023003.2:c.380G>T (DNASE1)	XP_016878492.1:p.Arg127Leu
XM_017023004.1:c.380G>T (DNASE1)	XP_016878493.1:p.Arg127Leu
XM_017023005.1:c.380G>T (DNASE1)	XP_016878494.1:p.Arg127Leu
XM_017023006.1:c.380G>T (DNASE1)	XP_016878495.1:p.Arg127Leu
XM_024450169.1:c.731G>T (DNASE1)	XP_024305937.1:p.Arg244Leu
XM_024450170.1:c.731G>T (DNASE1)	XP_024305938.1:p.Arg244Leu
XM_024450171.1:c.524G>T (DNASE1)	XP_024305939.1:p.Arg175Leu
XM_024450172.1:c.*63G>T (DNASE1)	XP_024305940.1:n.*63G>T
XR_002957783.1:n.2057G>T (DNASE1)
XR_002957784.1:n.1982G>T (DNASE1)
XR_002957785.1:n.1859G>T (DNASE1)
NM_001351825.2:c.731G>T (DNASE1)	NP_001338754.1:p.Arg244Leu
NM_001387135.1:c.731G>T (DNASE1)	NP_001374064.1:p.Arg244Leu
NM_001387139.1:c.800G>T (DNASE1)	NP_001374068.1:p.Arg267Leu
NM_001387140.1:c.731G>T (DNASE1)	NP_001374069.1:p.Arg244Leu
NM_001387141.1:c.524G>T (DNASE1)	NP_001374070.1:p.Arg175Leu
NM_005223.4:c.731G>T (DNASE1) MANE Select	NP_005214.2:p.Arg244Leu
NR_170561.1:n.1196G>T (DNASE1)
NR_170562.1:n.1061G>T (DNASE1)