Canonical Allele Identifier: CA2535655434

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 1601926
• ClinVar RCV Id: RCV002127603
• dbSNP Id: rs2139968591
• gnomAD v4: 14-91887178-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887178G>A , CM000676.2:g.91887178G>A	GRCh38
NC_000014.8:g.92353522G>A , CM000676.1:g.92353522G>A	GRCh37
NC_000014.7:g.91423275G>A	NCBI36
NG_008254.1:g.65525C>T , LRG_364:g.65525C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*705+15C>T	ENSP00000451002.1:n.*705+15C>T
ENST00000557570.2:c.571+15C>T	ENSP00000450787.2:n.571+15C>T
ENST00000706676.1:c.913+15C>T	ENSP00000516492.1:n.913+15C>T
ENST00000706677.1:c.739+15C>T	ENSP00000516493.1:n.739+15C>T
ENST00000706678.1:n.659+15C>T
ENST00000706679.1:c.571+15C>T	ENSP00000516494.1:n.571+15C>T
ENST00000706680.1:c.*582+15C>T	ENSP00000516495.1:n.*582+15C>T
ENST00000706681.1:c.*478+15C>T	ENSP00000516496.1:n.*478+15C>T
ENST00000342058.9:c.739+15C>T MANE Select	ENSP00000345008.4:n.739+15C>T
ENST00000267620.14:c.862+15C>T	ENSP00000267620.10:n.862+15C>T
ENST00000342058.8:c.739+15C>T	ENSP00000345008.4:n.739+15C>T
ENST00000556154.5:c.754+15C>T	ENSP00000451982.1:n.754+15C>T
NM_006329.3:c.739+15C>T , LRG_364t1:c.739+15C>T	NP_006320.2:n.739+15C>T
XM_005267267.3:c.790+15C>T	XP_005267324.1:n.790+15C>T
XM_011536356.1:c.790+15C>T	XP_011534658.1:n.790+15C>T
XM_011536357.1:c.739+15C>T	XP_011534659.1:n.739+15C>T
XM_011536358.1:c.571+15C>T	XP_011534660.1:n.571+15C>T
XM_011536357.2:c.739+15C>T	XP_011534659.1:n.739+15C>T
XM_011536358.2:c.571+15C>T	XP_011534660.1:n.571+15C>T
XM_017020929.2:c.571+15C>T	XP_016876418.1:n.571+15C>T
NM_001384158.1:c.862+15C>T	NP_001371087.1:n.862+15C>T
NM_001384159.1:c.790+15C>T	NP_001371088.1:n.790+15C>T
NM_001384160.1:c.739+15C>T	NP_001371089.1:n.739+15C>T
NM_001384161.1:c.571+15C>T	NP_001371090.1:n.571+15C>T
NM_001384162.1:c.571+15C>T	NP_001371091.1:n.571+15C>T
NM_006329.4:c.739+15C>T MANE Select	NP_006320.2:n.739+15C>T