Canonical Allele Identifier: CA390640014

Gene: FBLN5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*144G>A	ENSP00000451002.1:n.*144G>A
ENST00000557570.2:c.10G>A	ENSP00000450787.2:p.Val4Ile
ENST00000706676.1:c.352G>A	ENSP00000516492.1:p.Val118Ile
ENST00000706677.1:c.178G>A	ENSP00000516493.1:p.Val60Ile
ENST00000706679.1:c.10G>A	ENSP00000516494.1:p.Val4Ile
ENST00000706680.1:c.*144G>A	ENSP00000516495.1:n.*144G>A
ENST00000706681.1:c.*102G>A	ENSP00000516496.1:n.*102G>A
ENST00000342058.9:c.178G>A MANE Select	ENSP00000345008.4:p.Val60Ile
ENST00000267620.14:c.301G>A	ENSP00000267620.10:p.Val101Ile
ENST00000342058.8:c.178G>A	ENSP00000345008.4:p.Val60Ile
ENST00000554468.5:c.178G>A	ENSP00000451486.1:p.Val60Ile
ENST00000556154.5:c.193G>A	ENSP00000451982.1:p.Val65Ile
ENST00000557088.5:c.*144G>A	ENSP00000451002.1:n.*144G>A
ENST00000557462.5:n.424G>A
NM_006329.3:c.178G>A , LRG_364t1:c.178G>A	NP_006320.2:p.Val60Ile
XM_005267267.3:c.229G>A	XP_005267324.1:p.Val77Ile
XM_011536356.1:c.229G>A	XP_011534658.1:p.Val77Ile
XM_011536357.1:c.178G>A	XP_011534659.1:p.Val60Ile
XM_011536358.1:c.10G>A	XP_011534660.1:p.Val4Ile
XM_011536357.2:c.178G>A	XP_011534659.1:p.Val60Ile
XM_011536358.2:c.10G>A	XP_011534660.1:p.Val4Ile
XM_017020929.2:c.10G>A	XP_016876418.1:p.Val4Ile
NM_001384158.1:c.301G>A	NP_001371087.1:p.Val101Ile
NM_001384159.1:c.229G>A	NP_001371088.1:p.Val77Ile
NM_001384160.1:c.178G>A	NP_001371089.1:p.Val60Ile
NM_001384161.1:c.10G>A	NP_001371090.1:p.Val4Ile
NM_001384162.1:c.10G>A	NP_001371091.1:p.Val4Ile
NM_006329.4:c.178G>A MANE Select	NP_006320.2:p.Val60Ile