Canonical Allele Identifier: CA375415281

Gene: ADAMTS13

Linked Data

• COSMIC: COSM6237717
• MyVariant Identifiers: chr9:g.133456158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133456158C>T , CM000671.2:g.133456158C>T	GRCh38
NC_000009.10:g.135311101C>T	NCBI36
NG_011934.2:g.46820C>T , LRG_544:g.46820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3490C>T MANE Select	ENSP00000347927.2:p.Pro1164Ser
ENST00000355699.6:c.3490C>T	ENSP00000347927.2:p.Pro1164Ser
ENST00000356589.6:c.3397C>T	ENSP00000348997.2:p.Pro1133Ser
ENST00000371910.1:c.46C>T	ENSP00000360978.1:p.Pro16Ser
ENST00000371916.5:c.*959C>T	ENSP00000360984.2:n.*959C>T
ENST00000371929.7:c.3658C>T	ENSP00000360997.3:p.Pro1220Ser
ENST00000485925.5:n.2306C>T
NM_139025.4:c.3658C>T , LRG_544t1:c.3658C>T	NP_620594.1:p.Pro1220Ser
NM_139026.4:c.3397C>T	NP_620595.1:p.Pro1133Ser
NM_139027.4:c.3490C>T	NP_620596.2:p.Pro1164Ser
NR_024514.2:n.2325C>T
XM_011518174.1:c.3268C>T	XP_011516476.1:p.Pro1090Ser
XM_011518175.1:c.*65C>T	XP_011516477.1:n.*65C>T
XM_011518176.1:c.2674C>T	XP_011516478.1:p.Pro892Ser
XM_011518177.1:c.2668C>T	XP_011516479.1:p.Pro890Ser
XM_011518178.1:c.2323C>T	XP_011516480.1:p.Pro775Ser
XM_011518179.1:c.2323C>T	XP_011516481.1:p.Pro775Ser
XM_011518180.1:c.1924C>T	XP_011516482.1:p.Pro642Ser
XM_011518176.3:c.2674C>T	XP_011516478.1:p.Pro892Ser
XM_011518178.2:c.2323C>T	XP_011516480.1:p.Pro775Ser
XM_017014232.1:c.3646C>T	XP_016869721.1:p.Pro1216Ser
XM_017014233.1:c.3268C>T	XP_016869722.1:p.Pro1090Ser
XM_017014234.2:c.2668C>T	XP_016869723.1:p.Pro890Ser
NM_139026.5:c.3397C>T	NP_620595.1:p.Pro1133Ser
NM_139027.5:c.3490C>T	NP_620596.2:p.Pro1164Ser
NM_139025.5:c.3658C>T	NP_620594.1:p.Pro1220Ser
NM_139026.6:c.3397C>T	NP_620595.1:p.Pro1133Ser
NM_139027.6:c.3490C>T MANE Select	NP_620596.2:p.Pro1164Ser
NR_024514.3:n.2327C>T