Canonical Allele Identifier: CA391670229

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39589885T>G , CM000677.2:g.39589885T>G GRCh38
NC_000015.9:g.39882086T>G , CM000677.1:g.39882086T>G GRCh37
NC_000015.8:g.37669378T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260356.6:c.2007T>G (THBS1) MANE Select ENSP00000260356.5:p.Tyr669Ter
ENST00000642527.1:c.771-1311A>C (FSIP1)
ENST00000260356.5:c.2007T>G (THBS1) ENSP00000260356.5:p.Tyr669Ter
NM_003246.2:c.2007T>G (THBS1) NP_003237.2:p.Tyr669Ter
NM_003246.3:c.2007T>G (THBS1) NP_003237.2:p.Tyr669Ter
XM_011521970.1:c.2007T>G (THBS1) XP_011520272.1:p.Tyr669Ter
XM_011521971.1:c.1833T>G (THBS1) XP_011520273.1:p.Tyr611Ter
XR_931897.1:n.2182T>G (THBS1)
XM_011521971.2:c.1833T>G (THBS1) XP_011520273.1:p.Tyr611Ter
NM_003246.4:c.2007T>G (THBS1) MANE Select NP_003237.2:p.Tyr669Ter