Canonical Allele Identifier: CA391670243

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39589890A>T , CM000677.2:g.39589890A>T GRCh38
NC_000015.9:g.39882091A>T , CM000677.1:g.39882091A>T GRCh37
NC_000015.8:g.37669383A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260356.6:c.2012A>T (THBS1) MANE Select ENSP00000260356.5:p.Asp671Val
ENST00000642527.1:c.771-1316T>A (FSIP1)
ENST00000260356.5:c.2012A>T (THBS1) ENSP00000260356.5:p.Asp671Val
NM_003246.2:c.2012A>T (THBS1) NP_003237.2:p.Asp671Val
NM_003246.3:c.2012A>T (THBS1) NP_003237.2:p.Asp671Val
XM_011521970.1:c.2012A>T (THBS1) XP_011520272.1:p.Asp671Val
XM_011521971.1:c.1838A>T (THBS1) XP_011520273.1:p.Asp613Val
XR_931897.1:n.2187A>T (THBS1)
XM_011521971.2:c.1838A>T (THBS1) XP_011520273.1:p.Asp613Val
NM_003246.4:c.2012A>T (THBS1) MANE Select NP_003237.2:p.Asp671Val