Canonical Allele Identifier: CA2571301
Gene: PARP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122540585A>G , CM000665.2:g.122540585A>G GRCh38
NC_000003.11:g.122259432A>G , CM000665.1:g.122259432A>G GRCh37
NC_000003.10:g.123742122A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682323.1:c.1652T>C MANE Select ENSP00000507390.1:p.Ile551Thr
ENST00000360356.6:c.1757T>C ENSP00000353512.2:p.Ile586Thr
ENST00000462315.5:c.1652T>C ENSP00000418894.1:p.Ile551Thr
ENST00000471785.5:c.1652T>C ENSP00000419001.1:p.Ile551Thr
ENST00000477522.6:c.1652T>C ENSP00000419506.1:p.Ile551Thr
ENST00000489652.1:n.840T>C
ENST00000492382.5:c.392T>C ENSP00000417664.1:p.Ile131Thr
NM_001146102.1:c.1757T>C NP_001139574.1:p.Ile586Thr
NM_001146103.1:c.1652T>C NP_001139575.1:p.Ile551Thr
NM_001146104.1:c.1652T>C NP_001139576.1:p.Ile551Thr
NM_001146105.1:c.1652T>C NP_001139577.1:p.Ile551Thr
NM_001146106.1:c.1652T>C NP_001139578.1:p.Ile551Thr
NM_031458.2:c.1757T>C NP_113646.2:p.Ile586Thr
XM_005247820.1:c.1757T>C XP_005247877.1:p.Ile586Thr
XM_011513218.1:c.1757T>C XP_011511520.1:p.Ile586Thr
XM_005247820.2:c.1757T>C XP_005247877.1:p.Ile586Thr
XM_017007304.1:c.1757T>C XP_016862793.1:p.Ile586Thr
XM_017007305.2:c.1652T>C XP_016862794.1:p.Ile551Thr
XM_017007306.1:c.1652T>C XP_016862795.1:p.Ile551Thr
XR_001740305.1:n.1874T>C
XR_001740306.2:n.1772T>C
XR_001740307.1:n.2753T>C
XR_001740308.2:n.2648T>C
XR_001740309.2:n.2651T>C
XR_001740869.1:n.675+9366A>G
XR_002959597.1:n.1874T>C
NM_001146102.2:c.1757T>C NP_001139574.1:p.Ile586Thr
NM_001146103.2:c.1652T>C NP_001139575.1:p.Ile551Thr
NM_001146104.2:c.1652T>C NP_001139576.1:p.Ile551Thr
NM_001146105.2:c.1652T>C MANE Select NP_001139577.1:p.Ile551Thr
NM_001146106.2:c.1652T>C NP_001139578.1:p.Ile551Thr
NM_031458.3:c.1757T>C NP_113646.2:p.Ile586Thr
NM_001146106.3:c.1652T>C NP_001139578.1:p.Ile551Thr
NM_001387871.1:c.1757T>C NP_001374800.1:p.Ile586Thr
NM_001387872.1:c.1757T>C NP_001374801.1:p.Ile586Thr
NM_001387873.1:c.1691T>C NP_001374802.1:p.Ile564Thr
NM_001387874.1:c.1691T>C NP_001374803.1:p.Ile564Thr
NM_001387875.1:c.1652T>C NP_001374804.1:p.Ile551Thr
NM_001387876.1:c.1652T>C NP_001374805.1:p.Ile551Thr
NM_001387877.1:c.1652T>C NP_001374806.1:p.Ile551Thr
NM_001387878.1:c.1757T>C NP_001374807.1:p.Ile586Thr
NM_001387879.1:c.1757T>C NP_001374808.1:p.Ile586Thr
NM_001387880.1:c.1757T>C NP_001374809.1:p.Ile586Thr
NM_001387881.1:c.1652T>C NP_001374810.1:p.Ile551Thr
NM_001387882.1:c.1652T>C NP_001374811.1:p.Ile551Thr
NM_001387883.1:c.1652T>C NP_001374812.1:p.Ile551Thr
NM_001387884.1:c.1652T>C NP_001374813.1:p.Ile551Thr
NM_001387885.1:c.1652T>C NP_001374814.1:p.Ile551Thr
NM_001387886.1:c.1652T>C NP_001374815.1:p.Ile551Thr
NM_001387887.1:c.1652T>C NP_001374816.1:p.Ile551Thr
NR_170857.1:n.2966T>C
NR_170858.1:n.2966T>C
NR_170859.1:n.2673T>C
NR_170860.1:n.2676T>C
NR_170861.1:n.2778T>C
NR_170862.1:n.2676T>C
NR_170863.1:n.1797T>C
NR_170864.1:n.1797T>C
NR_170865.1:n.1931T>C