Canonical Allele Identifier: CA2155133319

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870246T= , CM000676.2:g.91870246T=	GRCh38
NC_000014.8:g.92336590T= , CM000676.1:g.92336590T=	GRCh37
NC_000014.7:g.91406343T=	NCBI36
NG_008254.1:g.82457A= , LRG_364:g.82457A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1291A=	ENSP00000451002.1:n.*1291A=
ENST00000557570.2:c.1157A=	ENSP00000450787.2:p.Tyr386=
ENST00000706675.1:n.1140A=
ENST00000706676.1:c.1499A=	ENSP00000516492.1:p.Tyr500=
ENST00000706677.1:c.*109A=	ENSP00000516493.1:n.*109A=
ENST00000706678.1:n.1245A=
ENST00000706679.1:c.1157A=	ENSP00000516494.1:p.Tyr386=
ENST00000706680.1:c.*1168A=	ENSP00000516495.1:n.*1168A=
ENST00000706681.1:c.*1064A=	ENSP00000516496.1:n.*1064A=
ENST00000342058.9:c.1325A= MANE Select	ENSP00000345008.4:p.Tyr442=
ENST00000267620.14:c.1448A=	ENSP00000267620.10:p.Tyr483=
ENST00000342058.8:c.1325A=	ENSP00000345008.4:p.Tyr442=
ENST00000554121.2:n.451A=
ENST00000556154.5:c.1340A=	ENSP00000451982.1:p.Tyr447=
ENST00000556961.1:n.1460A=
NM_006329.3:c.1325A= , LRG_364t1:c.1325A=	NP_006320.2:p.Tyr442=
XM_005267267.3:c.1376A=	XP_005267324.1:p.Tyr459=
XM_011536356.1:c.*109A=	XP_011534658.1:n.*109A=
XM_011536357.1:c.*109A=	XP_011534659.1:n.*109A=
XM_011536358.1:c.*109A=	XP_011534660.1:n.*109A=
XM_011536357.2:c.*109A=	XP_011534659.1:n.*109A=
XM_011536358.2:c.*109A=	XP_011534660.1:n.*109A=
XM_017020929.2:c.1157A=	XP_016876418.1:p.Tyr386=
NM_001384158.1:c.1448A=	NP_001371087.1:p.Tyr483=
NM_001384159.1:c.1376A=	NP_001371088.1:p.Tyr459=
NM_001384160.1:c.*109A=	NP_001371089.1:n.*109A=
NM_001384161.1:c.*109A=	NP_001371090.1:n.*109A=
NM_001384162.1:c.1157A=	NP_001371091.1:p.Tyr386=
NM_006329.4:c.1325A= MANE Select	NP_006320.2:p.Tyr442=