Canonical Allele Identifier: CA3165433000
Community Standard Title: NM_139027.6(ADAMTS13):c.3602T= (p.Leu1201=)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133456597T= , CM000671.2:g.133456597T= GRCh38
NC_000009.10:g.135311540T= NCBI36
NG_011934.2:g.47259T= , LRG_544:g.47259T=

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.3602T= MANE Select NP_620596.2:p.Leu1201=
ENST00000355699.7:c.3602T= MANE Select ENSP00000347927.2:p.Leu1201=
NM_139025.4:c.3770T= , LRG_544t1:c.3770T= NP_620594.1:p.Leu1257=
NM_139025.5:c.3770T= NP_620594.1:p.Leu1257=
NM_139026.4:c.3509T= NP_620595.1:p.Leu1170=
NM_139026.5:c.3509T= NP_620595.1:p.Leu1170=
NM_139026.6:c.3509T= NP_620595.1:p.Leu1170=
NM_139027.4:c.3602T= NP_620596.2:p.Leu1201=
NM_139027.5:c.3602T= NP_620596.2:p.Leu1201=
NR_024514.2:n.2437T=
NR_024514.3:n.2439T=
ENST00000355699.6:c.3602T= ENSP00000347927.2:p.Leu1201=
ENST00000356589.6:c.3509T= ENSP00000348997.2:p.Leu1170=
ENST00000371910.1:c.158T= ENSP00000360978.1:p.Leu53=
ENST00000371916.5:c.*1071T= ENSP00000360984.2:n.*1071T=
ENST00000371929.7:c.3770T= ENSP00000360997.3:p.Leu1257=
ENST00000485925.5:n.2418T=
XM_011518174.1:c.3380T= XP_011516476.1:p.Leu1127=
XM_011518176.1:c.2786T= XP_011516478.1:p.Leu929=
XM_011518176.3:c.2786T= XP_011516478.1:p.Leu929=
XM_011518177.1:c.2780T= XP_011516479.1:p.Leu927=
XM_011518178.1:c.2435T= XP_011516480.1:p.Leu812=
XM_011518178.2:c.2435T= XP_011516480.1:p.Leu812=
XM_011518179.1:c.2435T= XP_011516481.1:p.Leu812=
XM_011518180.1:c.2036T= XP_011516482.1:p.Leu679=
XM_017014232.1:c.3758T= XP_016869721.1:p.Leu1253=
XM_017014233.1:c.3380T= XP_016869722.1:p.Leu1127=
XM_017014234.2:c.2780T= XP_016869723.1:p.Leu927=