Canonical Allele Identifier: CA391669578

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39589039C>T , CM000677.2:g.39589039C>T GRCh38
NC_000015.9:g.39881240C>T , CM000677.1:g.39881240C>T GRCh37
NC_000015.8:g.37668532C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260356.6:c.1726C>T (THBS1) MANE Select ENSP00000260356.5:p.Pro576Ser
ENST00000642527.1:c.771-465G>A (FSIP1)
ENST00000260356.5:c.1726C>T (THBS1) ENSP00000260356.5:p.Pro576Ser
ENST00000490247.1:n.192C>T (THBS1)
NM_003246.2:c.1726C>T (THBS1) NP_003237.2:p.Pro576Ser
NM_003246.3:c.1726C>T (THBS1) NP_003237.2:p.Pro576Ser
XM_011521970.1:c.1726C>T (THBS1) XP_011520272.1:p.Pro576Ser
XM_011521971.1:c.1552C>T (THBS1) XP_011520273.1:p.Pro518Ser
XR_931897.1:n.1901C>T (THBS1)
XM_011521971.2:c.1552C>T (THBS1) XP_011520273.1:p.Pro518Ser
NM_003246.4:c.1726C>T (THBS1) MANE Select NP_003237.2:p.Pro576Ser