Canonical Allele Identifier: CA2171400193

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39589977A= , CM000677.2:g.39589977A= GRCh38
NC_000015.9:g.39882178A= , CM000677.1:g.39882178A= GRCh37
NC_000015.8:g.37669470A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.2099A= (THBS1) MANE Select ENSP00000260356.5:p.Asn700=
ENST00000642527.1:c.771-1403T= (FSIP1)
ENST00000260356.5:c.2099A= (THBS1) ENSP00000260356.5:p.Asn700=
NM_003246.2:c.2099A= (THBS1) NP_003237.2:p.Asn700=
NM_003246.3:c.2099A= (THBS1) NP_003237.2:p.Asn700=
XM_011521970.1:c.2099A= (THBS1) XP_011520272.1:p.Asn700=
XM_011521971.1:c.1925A= (THBS1) XP_011520273.1:p.Asn642=
XR_931897.1:n.2274A= (THBS1)
XM_011521971.2:c.1925A= (THBS1) XP_011520273.1:p.Asn642=
NM_003246.4:c.2099A= (THBS1) MANE Select NP_003237.2:p.Asn700=