Canonical Allele Identifier: CA342104

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 21454
• ClinVar RCV Id: RCV000020642 ; RCV003447089
• dbSNP Id: rs80338766
• MyVariant Identifiers: chr14:g.92353627A>G (hg19) ; chr14:g.91887283A>G (hg38)
• PubMed: PMID:18185537 ; PMID:20301756 ; PMID:22829427

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887283A>G , CM000676.2:g.91887283A>G	GRCh38
NC_000014.8:g.92353627A>G , CM000676.1:g.92353627A>G	GRCh37
NC_000014.7:g.91423380A>G	NCBI36
NG_008254.1:g.65420T>C , LRG_364:g.65420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*615T>C	ENSP00000451002.1:n.*615T>C
ENST00000557570.2:c.481T>C	ENSP00000450787.2:p.Cys161Arg
ENST00000706676.1:c.823T>C	ENSP00000516492.1:p.Cys275Arg
ENST00000706677.1:c.649T>C	ENSP00000516493.1:p.Cys217Arg
ENST00000706678.1:n.569T>C
ENST00000706679.1:c.481T>C	ENSP00000516494.1:p.Cys161Arg
ENST00000706680.1:c.*492T>C	ENSP00000516495.1:n.*492T>C
ENST00000706681.1:c.*388T>C	ENSP00000516496.1:n.*388T>C
ENST00000342058.9:c.649T>C MANE Select	ENSP00000345008.4:p.Cys217Arg
ENST00000267620.14:c.772T>C	ENSP00000267620.10:p.Cys258Arg
ENST00000342058.8:c.649T>C	ENSP00000345008.4:p.Cys217Arg
ENST00000556154.5:c.664T>C	ENSP00000451982.1:p.Cys222Arg
NM_006329.3:c.649T>C , LRG_364t1:c.649T>C	NP_006320.2:p.Cys217Arg
XM_005267267.3:c.700T>C	XP_005267324.1:p.Cys234Arg
XM_011536356.1:c.700T>C	XP_011534658.1:p.Cys234Arg
XM_011536357.1:c.649T>C	XP_011534659.1:p.Cys217Arg
XM_011536358.1:c.481T>C	XP_011534660.1:p.Cys161Arg
XM_011536357.2:c.649T>C	XP_011534659.1:p.Cys217Arg
XM_011536358.2:c.481T>C	XP_011534660.1:p.Cys161Arg
XM_017020929.2:c.481T>C	XP_016876418.1:p.Cys161Arg
NM_001384158.1:c.772T>C	NP_001371087.1:p.Cys258Arg
NM_001384159.1:c.700T>C	NP_001371088.1:p.Cys234Arg
NM_001384160.1:c.649T>C	NP_001371089.1:p.Cys217Arg
NM_001384161.1:c.481T>C	NP_001371090.1:p.Cys161Arg
NM_001384162.1:c.481T>C	NP_001371091.1:p.Cys161Arg
NM_006329.4:c.649T>C MANE Select	NP_006320.2:p.Cys217Arg