Canonical Allele Identifier: CA390641085

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 2707509
• ClinVar RCV Id: RCV003544907
• MyVariant Identifiers: chr14:g.92344006T>A (hg19) ; chr14:g.91877662T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877662T>A , CM000676.2:g.91877662T>A	GRCh38
NC_000014.8:g.92344006T>A , CM000676.1:g.92344006T>A	GRCh37
NC_000014.7:g.91413759T>A	NCBI36
NG_008254.1:g.75041A>T , LRG_364:g.75041A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*976A>T	ENSP00000451002.1:n.*976A>T
ENST00000557570.2:c.842A>T	ENSP00000450787.2:p.Glu281Val
ENST00000706675.1:n.825A>T
ENST00000706676.1:c.1184A>T	ENSP00000516492.1:p.Glu395Val
ENST00000706677.1:c.1010A>T	ENSP00000516493.1:p.Glu337Val
ENST00000706678.1:n.930A>T
ENST00000706679.1:c.842A>T	ENSP00000516494.1:p.Glu281Val
ENST00000706680.1:c.*853A>T	ENSP00000516495.1:n.*853A>T
ENST00000706681.1:c.*749A>T	ENSP00000516496.1:n.*749A>T
ENST00000342058.9:c.1010A>T MANE Select	ENSP00000345008.4:p.Glu337Val
ENST00000267620.14:c.1133A>T	ENSP00000267620.10:p.Glu378Val
ENST00000342058.8:c.1010A>T	ENSP00000345008.4:p.Glu337Val
ENST00000554121.2:n.136A>T
ENST00000556154.5:c.1025A>T	ENSP00000451982.1:p.Glu342Val
NM_006329.3:c.1010A>T , LRG_364t1:c.1010A>T	NP_006320.2:p.Glu337Val
XM_005267267.3:c.1061A>T	XP_005267324.1:p.Glu354Val
XM_011536356.1:c.1061A>T	XP_011534658.1:p.Glu354Val
XM_011536357.1:c.1010A>T	XP_011534659.1:p.Glu337Val
XM_011536358.1:c.842A>T	XP_011534660.1:p.Glu281Val
XM_011536357.2:c.1010A>T	XP_011534659.1:p.Glu337Val
XM_011536358.2:c.842A>T	XP_011534660.1:p.Glu281Val
XM_017020929.2:c.842A>T	XP_016876418.1:p.Glu281Val
NM_001384158.1:c.1133A>T	NP_001371087.1:p.Glu378Val
NM_001384159.1:c.1061A>T	NP_001371088.1:p.Glu354Val
NM_001384160.1:c.1010A>T	NP_001371089.1:p.Glu337Val
NM_001384161.1:c.842A>T	NP_001371090.1:p.Glu281Val
NM_001384162.1:c.842A>T	NP_001371091.1:p.Glu281Val
NM_006329.4:c.1010A>T MANE Select	NP_006320.2:p.Glu337Val