Canonical Allele Identifier: CA390639388

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 2017076
• ClinVar RCV Id: RCV002851895
• MyVariant Identifiers: chr14:g.92336684T>A (hg19) ; chr14:g.91870340T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870340T>A , CM000676.2:g.91870340T>A	GRCh38
NC_000014.8:g.92336684T>A , CM000676.1:g.92336684T>A	GRCh37
NC_000014.7:g.91406437T>A	NCBI36
NG_008254.1:g.82363A>T , LRG_364:g.82363A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*1197A>T	ENSP00000451002.1:n.*1197A>T
ENST00000557570.2:c.1063A>T	ENSP00000450787.2:p.Lys355Ter
ENST00000706675.1:n.1046A>T
ENST00000706676.1:c.1405A>T	ENSP00000516492.1:p.Lys469Ter
ENST00000706677.1:c.*15A>T	ENSP00000516493.1:n.*15A>T
ENST00000706678.1:n.1151A>T
ENST00000706679.1:c.1063A>T	ENSP00000516494.1:p.Lys355Ter
ENST00000706680.1:c.*1074A>T	ENSP00000516495.1:n.*1074A>T
ENST00000706681.1:c.*970A>T	ENSP00000516496.1:n.*970A>T
ENST00000342058.9:c.1231A>T MANE Select	ENSP00000345008.4:p.Lys411Ter
ENST00000267620.14:c.1354A>T	ENSP00000267620.10:p.Lys452Ter
ENST00000342058.8:c.1231A>T	ENSP00000345008.4:p.Lys411Ter
ENST00000554121.2:n.357A>T
ENST00000556154.5:c.1246A>T	ENSP00000451982.1:p.Lys416Ter
ENST00000556961.1:n.1366A>T
NM_006329.3:c.1231A>T , LRG_364t1:c.1231A>T	NP_006320.2:p.Lys411Ter
XM_005267267.3:c.1282A>T	XP_005267324.1:p.Lys428Ter
XM_011536356.1:c.*15A>T	XP_011534658.1:n.*15A>T
XM_011536357.1:c.*15A>T	XP_011534659.1:n.*15A>T
XM_011536358.1:c.*15A>T	XP_011534660.1:n.*15A>T
XM_011536357.2:c.*15A>T	XP_011534659.1:n.*15A>T
XM_011536358.2:c.*15A>T	XP_011534660.1:n.*15A>T
XM_017020929.2:c.1063A>T	XP_016876418.1:p.Lys355Ter
NM_001384158.1:c.1354A>T	NP_001371087.1:p.Lys452Ter
NM_001384159.1:c.1282A>T	NP_001371088.1:p.Lys428Ter
NM_001384160.1:c.*15A>T	NP_001371089.1:n.*15A>T
NM_001384161.1:c.*15A>T	NP_001371090.1:n.*15A>T
NM_001384162.1:c.1063A>T	NP_001371091.1:p.Lys355Ter
NM_006329.4:c.1231A>T MANE Select	NP_006320.2:p.Lys411Ter