Canonical Allele Identifier: CA390641161

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91877677-C-T
• MyVariant Identifiers: chr14:g.92344021C>T (hg19) ; chr14:g.91877677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877677C>T , CM000676.2:g.91877677C>T	GRCh38
NC_000014.8:g.92344021C>T , CM000676.1:g.92344021C>T	GRCh37
NC_000014.7:g.91413774C>T	NCBI36
NG_008254.1:g.75026G>A , LRG_364:g.75026G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*961G>A	ENSP00000451002.1:n.*961G>A
ENST00000557570.2:c.827G>A	ENSP00000450787.2:p.Cys276Tyr
ENST00000706675.1:n.810G>A
ENST00000706676.1:c.1169G>A	ENSP00000516492.1:p.Cys390Tyr
ENST00000706677.1:c.995G>A	ENSP00000516493.1:p.Cys332Tyr
ENST00000706678.1:n.915G>A
ENST00000706679.1:c.827G>A	ENSP00000516494.1:p.Cys276Tyr
ENST00000706680.1:c.*838G>A	ENSP00000516495.1:n.*838G>A
ENST00000706681.1:c.*734G>A	ENSP00000516496.1:n.*734G>A
ENST00000342058.9:c.995G>A MANE Select	ENSP00000345008.4:p.Cys332Tyr
ENST00000267620.14:c.1118G>A	ENSP00000267620.10:p.Cys373Tyr
ENST00000342058.8:c.995G>A	ENSP00000345008.4:p.Cys332Tyr
ENST00000554121.2:n.121G>A
ENST00000556154.5:c.1010G>A	ENSP00000451982.1:p.Cys337Tyr
NM_006329.3:c.995G>A , LRG_364t1:c.995G>A	NP_006320.2:p.Cys332Tyr
XM_005267267.3:c.1046G>A	XP_005267324.1:p.Cys349Tyr
XM_011536356.1:c.1046G>A	XP_011534658.1:p.Cys349Tyr
XM_011536357.1:c.995G>A	XP_011534659.1:p.Cys332Tyr
XM_011536358.1:c.827G>A	XP_011534660.1:p.Cys276Tyr
XM_011536357.2:c.995G>A	XP_011534659.1:p.Cys332Tyr
XM_011536358.2:c.827G>A	XP_011534660.1:p.Cys276Tyr
XM_017020929.2:c.827G>A	XP_016876418.1:p.Cys276Tyr
NM_001384158.1:c.1118G>A	NP_001371087.1:p.Cys373Tyr
NM_001384159.1:c.1046G>A	NP_001371088.1:p.Cys349Tyr
NM_001384160.1:c.995G>A	NP_001371089.1:p.Cys332Tyr
NM_001384161.1:c.827G>A	NP_001371090.1:p.Cys276Tyr
NM_001384162.1:c.827G>A	NP_001371091.1:p.Cys276Tyr
NM_006329.4:c.995G>A MANE Select	NP_006320.2:p.Cys332Tyr