Canonical Allele Identifier: CA2155153585

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887283A= , CM000676.2:g.91887283A=	GRCh38
NC_000014.8:g.92353627A= , CM000676.1:g.92353627A=	GRCh37
NC_000014.7:g.91423380A=	NCBI36
NG_008254.1:g.65420T= , LRG_364:g.65420T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*615T=	ENSP00000451002.1:n.*615T=
ENST00000557570.2:c.481T=	ENSP00000450787.2:p.Cys161=
ENST00000706676.1:c.823T=	ENSP00000516492.1:p.Cys275=
ENST00000706677.1:c.649T=	ENSP00000516493.1:p.Cys217=
ENST00000706678.1:n.569T=
ENST00000706679.1:c.481T=	ENSP00000516494.1:p.Cys161=
ENST00000706680.1:c.*492T=	ENSP00000516495.1:n.*492T=
ENST00000706681.1:c.*388T=	ENSP00000516496.1:n.*388T=
ENST00000342058.9:c.649T= MANE Select	ENSP00000345008.4:p.Cys217=
ENST00000267620.14:c.772T=	ENSP00000267620.10:p.Cys258=
ENST00000342058.8:c.649T=	ENSP00000345008.4:p.Cys217=
ENST00000556154.5:c.664T=	ENSP00000451982.1:p.Cys222=
NM_006329.3:c.649T= , LRG_364t1:c.649T=	NP_006320.2:p.Cys217=
XM_005267267.3:c.700T=	XP_005267324.1:p.Cys234=
XM_011536356.1:c.700T=	XP_011534658.1:p.Cys234=
XM_011536357.1:c.649T=	XP_011534659.1:p.Cys217=
XM_011536358.1:c.481T=	XP_011534660.1:p.Cys161=
XM_011536357.2:c.649T=	XP_011534659.1:p.Cys217=
XM_011536358.2:c.481T=	XP_011534660.1:p.Cys161=
XM_017020929.2:c.481T=	XP_016876418.1:p.Cys161=
NM_001384158.1:c.772T=	NP_001371087.1:p.Cys258=
NM_001384159.1:c.700T=	NP_001371088.1:p.Cys234=
NM_001384160.1:c.649T=	NP_001371089.1:p.Cys217=
NM_001384161.1:c.481T=	NP_001371090.1:p.Cys161=
NM_001384162.1:c.481T=	NP_001371091.1:p.Cys161=
NM_006329.4:c.649T= MANE Select	NP_006320.2:p.Cys217=