Canonical Allele Identifier: CA2155153518
Community Standard Title: NM_006329.4(FBLN5):c.679T= (p.Ser227=)
Gene: FBLN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91887253A= , CM000676.2:g.91887253A= GRCh38
NC_000014.8:g.92353597A= , CM000676.1:g.92353597A= GRCh37
NC_000014.7:g.91423350A= NCBI36
NG_008254.1:g.65450T= , LRG_364:g.65450T=

Transcript Alleles

HGVS Amino-acid Change
NM_006329.4:c.679T= MANE Select NP_006320.2:p.Ser227=
ENST00000342058.9:c.679T= MANE Select ENSP00000345008.4:p.Ser227=
NM_001384158.1:c.802T= NP_001371087.1:p.Ser268=
NM_001384159.1:c.730T= NP_001371088.1:p.Ser244=
NM_001384160.1:c.679T= NP_001371089.1:p.Ser227=
NM_001384161.1:c.511T= NP_001371090.1:p.Ser171=
NM_001384162.1:c.511T= NP_001371091.1:p.Ser171=
NM_006329.3:c.679T= , LRG_364t1:c.679T= NP_006320.2:p.Ser227=
ENST00000267620.14:c.802T= ENSP00000267620.10:p.Ser268=
ENST00000342058.8:c.679T= ENSP00000345008.4:p.Ser227=
ENST00000556154.5:c.694T= ENSP00000451982.1:p.Ser232=
ENST00000557088.6:c.*645T= ENSP00000451002.1:n.*645T=
ENST00000557570.2:c.511T= ENSP00000450787.2:p.Ser171=
ENST00000706676.1:c.853T= ENSP00000516492.1:p.Ser285=
ENST00000706677.1:c.679T= ENSP00000516493.1:p.Ser227=
ENST00000706678.1:n.599T=
ENST00000706679.1:c.511T= ENSP00000516494.1:p.Ser171=
ENST00000706680.1:c.*522T= ENSP00000516495.1:n.*522T=
ENST00000706681.1:c.*418T= ENSP00000516496.1:n.*418T=
XM_005267267.3:c.730T= XP_005267324.1:p.Ser244=
XM_011536356.1:c.730T= XP_011534658.1:p.Ser244=
XM_011536357.1:c.679T= XP_011534659.1:p.Ser227=
XM_011536357.2:c.679T= XP_011534659.1:p.Ser227=
XM_011536358.1:c.511T= XP_011534660.1:p.Ser171=
XM_011536358.2:c.511T= XP_011534660.1:p.Ser171=
XM_017020929.2:c.511T= XP_016876418.1:p.Ser171=