Canonical Allele Identifier: CA2155180601

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91937148C= , CM000676.2:g.91937148C=	GRCh38
NC_000014.8:g.92403492C= , CM000676.1:g.92403492C=	GRCh37
NC_000014.7:g.91473245C=	NCBI36
NG_008254.1:g.15555G= , LRG_364:g.15555G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*144G=	ENSP00000451002.1:n.*144G=
ENST00000557570.2:c.10G=	ENSP00000450787.2:p.Val4=
ENST00000706676.1:c.352G=	ENSP00000516492.1:p.Val118=
ENST00000706677.1:c.178G=	ENSP00000516493.1:p.Val60=
ENST00000706679.1:c.10G=	ENSP00000516494.1:p.Val4=
ENST00000706680.1:c.*144G=	ENSP00000516495.1:n.*144G=
ENST00000706681.1:c.*102G=	ENSP00000516496.1:n.*102G=
ENST00000342058.9:c.178G= MANE Select	ENSP00000345008.4:p.Val60=
ENST00000267620.14:c.301G=	ENSP00000267620.10:p.Val101=
ENST00000342058.8:c.178G=	ENSP00000345008.4:p.Val60=
ENST00000554468.5:c.178G=	ENSP00000451486.1:p.Val60=
ENST00000556154.5:c.193G=	ENSP00000451982.1:p.Val65=
ENST00000557088.5:c.*144G=	ENSP00000451002.1:n.*144G=
ENST00000557462.5:n.424G=
NM_006329.3:c.178G= , LRG_364t1:c.178G=	NP_006320.2:p.Val60=
XM_005267267.3:c.229G=	XP_005267324.1:p.Val77=
XM_011536356.1:c.229G=	XP_011534658.1:p.Val77=
XM_011536357.1:c.178G=	XP_011534659.1:p.Val60=
XM_011536358.1:c.10G=	XP_011534660.1:p.Val4=
XM_011536357.2:c.178G=	XP_011534659.1:p.Val60=
XM_011536358.2:c.10G=	XP_011534660.1:p.Val4=
XM_017020929.2:c.10G=	XP_016876418.1:p.Val4=
NM_001384158.1:c.301G=	NP_001371087.1:p.Val101=
NM_001384159.1:c.229G=	NP_001371088.1:p.Val77=
NM_001384160.1:c.178G=	NP_001371089.1:p.Val60=
NM_001384161.1:c.10G=	NP_001371090.1:p.Val4=
NM_001384162.1:c.10G=	NP_001371091.1:p.Val4=
NM_006329.4:c.178G= MANE Select	NP_006320.2:p.Val60=