Canonical Allele Identifier: CA390642719

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 2838985
• ClinVar RCV Id: RCV003723258
• MyVariant Identifiers: chr14:g.92353625G>C (hg19) ; chr14:g.91887281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887281G>C , CM000676.2:g.91887281G>C	GRCh38
NC_000014.8:g.92353625G>C , CM000676.1:g.92353625G>C	GRCh37
NC_000014.7:g.91423378G>C	NCBI36
NG_008254.1:g.65422C>G , LRG_364:g.65422C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*617C>G	ENSP00000451002.1:n.*617C>G
ENST00000557570.2:c.483C>G	ENSP00000450787.2:p.Cys161Trp
ENST00000706676.1:c.825C>G	ENSP00000516492.1:p.Cys275Trp
ENST00000706677.1:c.651C>G	ENSP00000516493.1:p.Cys217Trp
ENST00000706678.1:n.571C>G
ENST00000706679.1:c.483C>G	ENSP00000516494.1:p.Cys161Trp
ENST00000706680.1:c.*494C>G	ENSP00000516495.1:n.*494C>G
ENST00000706681.1:c.*390C>G	ENSP00000516496.1:n.*390C>G
ENST00000342058.9:c.651C>G MANE Select	ENSP00000345008.4:p.Cys217Trp
ENST00000267620.14:c.774C>G	ENSP00000267620.10:p.Cys258Trp
ENST00000342058.8:c.651C>G	ENSP00000345008.4:p.Cys217Trp
ENST00000556154.5:c.666C>G	ENSP00000451982.1:p.Cys222Trp
NM_006329.3:c.651C>G , LRG_364t1:c.651C>G	NP_006320.2:p.Cys217Trp
XM_005267267.3:c.702C>G	XP_005267324.1:p.Cys234Trp
XM_011536356.1:c.702C>G	XP_011534658.1:p.Cys234Trp
XM_011536357.1:c.651C>G	XP_011534659.1:p.Cys217Trp
XM_011536358.1:c.483C>G	XP_011534660.1:p.Cys161Trp
XM_011536357.2:c.651C>G	XP_011534659.1:p.Cys217Trp
XM_011536358.2:c.483C>G	XP_011534660.1:p.Cys161Trp
XM_017020929.2:c.483C>G	XP_016876418.1:p.Cys161Trp
NM_001384158.1:c.774C>G	NP_001371087.1:p.Cys258Trp
NM_001384159.1:c.702C>G	NP_001371088.1:p.Cys234Trp
NM_001384160.1:c.651C>G	NP_001371089.1:p.Cys217Trp
NM_001384161.1:c.483C>G	NP_001371090.1:p.Cys161Trp
NM_001384162.1:c.483C>G	NP_001371091.1:p.Cys161Trp
NM_006329.4:c.651C>G MANE Select	NP_006320.2:p.Cys217Trp