Canonical Allele Identifier: CA390640945

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 1379690
• ClinVar RCV Id: RCV001892053
• dbSNP Id: rs1230643704
• MyVariant Identifiers: chr14:g.92343976G>A (hg19) ; chr14:g.91877632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877632G>A , CM000676.2:g.91877632G>A	GRCh38
NC_000014.8:g.92343976G>A , CM000676.1:g.92343976G>A	GRCh37
NC_000014.7:g.91413729G>A	NCBI36
NG_008254.1:g.75071C>T , LRG_364:g.75071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1006C>T	ENSP00000451002.1:n.*1006C>T
ENST00000557570.2:c.872C>T	ENSP00000450787.2:p.Thr291Ile
ENST00000706675.1:n.855C>T
ENST00000706676.1:c.1214C>T	ENSP00000516492.1:p.Thr405Ile
ENST00000706677.1:c.1040C>T	ENSP00000516493.1:p.Thr347Ile
ENST00000706678.1:n.960C>T
ENST00000706679.1:c.872C>T	ENSP00000516494.1:p.Thr291Ile
ENST00000706680.1:c.*883C>T	ENSP00000516495.1:n.*883C>T
ENST00000706681.1:c.*779C>T	ENSP00000516496.1:n.*779C>T
ENST00000342058.9:c.1040C>T MANE Select	ENSP00000345008.4:p.Thr347Ile
ENST00000267620.14:c.1163C>T	ENSP00000267620.10:p.Thr388Ile
ENST00000342058.8:c.1040C>T	ENSP00000345008.4:p.Thr347Ile
ENST00000554121.2:n.166C>T
ENST00000556154.5:c.1055C>T	ENSP00000451982.1:p.Thr352Ile
NM_006329.3:c.1040C>T , LRG_364t1:c.1040C>T	NP_006320.2:p.Thr347Ile
XM_005267267.3:c.1091C>T	XP_005267324.1:p.Thr364Ile
XM_011536356.1:c.1091C>T	XP_011534658.1:p.Thr364Ile
XM_011536357.1:c.1040C>T	XP_011534659.1:p.Thr347Ile
XM_011536358.1:c.872C>T	XP_011534660.1:p.Thr291Ile
XM_011536357.2:c.1040C>T	XP_011534659.1:p.Thr347Ile
XM_011536358.2:c.872C>T	XP_011534660.1:p.Thr291Ile
XM_017020929.2:c.872C>T	XP_016876418.1:p.Thr291Ile
NM_001384158.1:c.1163C>T	NP_001371087.1:p.Thr388Ile
NM_001384159.1:c.1091C>T	NP_001371088.1:p.Thr364Ile
NM_001384160.1:c.1040C>T	NP_001371089.1:p.Thr347Ile
NM_001384161.1:c.872C>T	NP_001371090.1:p.Thr291Ile
NM_001384162.1:c.872C>T	NP_001371091.1:p.Thr291Ile
NM_006329.4:c.1040C>T MANE Select	NP_006320.2:p.Thr347Ile