Canonical Allele Identifier: CA200945311
Community Standard Title: NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133456566C>T , CM000671.2:g.133456566C>T GRCh38
NC_000009.10:g.135311509C>T NCBI36
NG_011934.2:g.47228C>T , LRG_544:g.47228C>T

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.3571C>T MANE Select NP_620596.2:p.Arg1191Trp
ENST00000355699.7:c.3571C>T MANE Select ENSP00000347927.2:p.Arg1191Trp
NM_139025.4:c.3739C>T , LRG_544t1:c.3739C>T NP_620594.1:p.Arg1247Trp
NM_139025.5:c.3739C>T NP_620594.1:p.Arg1247Trp
NM_139026.4:c.3478C>T NP_620595.1:p.Arg1160Trp
NM_139026.5:c.3478C>T NP_620595.1:p.Arg1160Trp
NM_139026.6:c.3478C>T NP_620595.1:p.Arg1160Trp
NM_139027.4:c.3571C>T NP_620596.2:p.Arg1191Trp
NM_139027.5:c.3571C>T NP_620596.2:p.Arg1191Trp
NR_024514.2:n.2406C>T
NR_024514.3:n.2408C>T
ENST00000355699.6:c.3571C>T ENSP00000347927.2:p.Arg1191Trp
ENST00000356589.6:c.3478C>T ENSP00000348997.2:p.Arg1160Trp
ENST00000371910.1:c.127C>T ENSP00000360978.1:p.Arg43Trp
ENST00000371916.5:c.*1040C>T ENSP00000360984.2:n.*1040C>T
ENST00000371929.7:c.3739C>T ENSP00000360997.3:p.Arg1247Trp
ENST00000485925.5:n.2387C>T
XM_011518174.1:c.3349C>T XP_011516476.1:p.Arg1117Trp
XM_011518176.1:c.2755C>T XP_011516478.1:p.Arg919Trp
XM_011518176.3:c.2755C>T XP_011516478.1:p.Arg919Trp
XM_011518177.1:c.2749C>T XP_011516479.1:p.Arg917Trp
XM_011518178.1:c.2404C>T XP_011516480.1:p.Arg802Trp
XM_011518178.2:c.2404C>T XP_011516480.1:p.Arg802Trp
XM_011518179.1:c.2404C>T XP_011516481.1:p.Arg802Trp
XM_011518180.1:c.2005C>T XP_011516482.1:p.Arg669Trp
XM_017014232.1:c.3727C>T XP_016869721.1:p.Arg1243Trp
XM_017014233.1:c.3349C>T XP_016869722.1:p.Arg1117Trp
XM_017014234.2:c.2749C>T XP_016869723.1:p.Arg917Trp