Canonical Allele Identifier: CA2155180512
Community Standard Title: NM_006329.4(FBLN5):c.259C= (p.Pro87=)
Gene: FBLN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91937067G= , CM000676.2:g.91937067G= GRCh38
NC_000014.8:g.92403411G= , CM000676.1:g.92403411G= GRCh37
NC_000014.7:g.91473164G= NCBI36
NG_008254.1:g.15636C= , LRG_364:g.15636C=

Transcript Alleles

HGVS Amino-acid Change
NM_006329.4:c.259C= MANE Select NP_006320.2:p.Pro87=
ENST00000342058.9:c.259C= MANE Select ENSP00000345008.4:p.Pro87=
NM_001384158.1:c.382C= NP_001371087.1:p.Pro128=
NM_001384159.1:c.310C= NP_001371088.1:p.Pro104=
NM_001384160.1:c.259C= NP_001371089.1:p.Pro87=
NM_001384161.1:c.91C= NP_001371090.1:p.Pro31=
NM_001384162.1:c.91C= NP_001371091.1:p.Pro31=
NM_006329.3:c.259C= , LRG_364t1:c.259C= NP_006320.2:p.Pro87=
ENST00000267620.14:c.382C= ENSP00000267620.10:p.Pro128=
ENST00000342058.8:c.259C= ENSP00000345008.4:p.Pro87=
ENST00000554468.5:c.259C= ENSP00000451486.1:p.Pro87=
ENST00000556154.5:c.274C= ENSP00000451982.1:p.Pro92=
ENST00000557088.5:c.*225C= ENSP00000451002.1:n.*225C=
ENST00000557088.6:c.*225C= ENSP00000451002.1:n.*225C=
ENST00000557462.5:n.505C=
ENST00000557570.2:c.91C= ENSP00000450787.2:p.Pro31=
ENST00000706676.1:c.433C= ENSP00000516492.1:p.Pro145=
ENST00000706677.1:c.259C= ENSP00000516493.1:p.Pro87=
ENST00000706679.1:c.91C= ENSP00000516494.1:p.Pro31=
ENST00000706680.1:c.*225C= ENSP00000516495.1:n.*225C=
ENST00000706681.1:c.*118+65C= ENSP00000516496.1:n.*118+65C=
XM_005267267.3:c.310C= XP_005267324.1:p.Pro104=
XM_011536356.1:c.310C= XP_011534658.1:p.Pro104=
XM_011536357.1:c.259C= XP_011534659.1:p.Pro87=
XM_011536357.2:c.259C= XP_011534659.1:p.Pro87=
XM_011536358.1:c.91C= XP_011534660.1:p.Pro31=
XM_011536358.2:c.91C= XP_011534660.1:p.Pro31=
XM_017020929.2:c.91C= XP_016876418.1:p.Pro31=