Canonical Allele Identifier: CA390640964

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343980A>C (hg19) ; chr14:g.91877636A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877636A>C , CM000676.2:g.91877636A>C	GRCh38
NC_000014.8:g.92343980A>C , CM000676.1:g.92343980A>C	GRCh37
NC_000014.7:g.91413733A>C	NCBI36
NG_008254.1:g.75067T>G , LRG_364:g.75067T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1002T>G	ENSP00000451002.1:n.*1002T>G
ENST00000557570.2:c.868T>G	ENSP00000450787.2:p.Phe290Val
ENST00000706675.1:n.851T>G
ENST00000706676.1:c.1210T>G	ENSP00000516492.1:p.Phe404Val
ENST00000706677.1:c.1036T>G	ENSP00000516493.1:p.Phe346Val
ENST00000706678.1:n.956T>G
ENST00000706679.1:c.868T>G	ENSP00000516494.1:p.Phe290Val
ENST00000706680.1:c.*879T>G	ENSP00000516495.1:n.*879T>G
ENST00000706681.1:c.*775T>G	ENSP00000516496.1:n.*775T>G
ENST00000342058.9:c.1036T>G MANE Select	ENSP00000345008.4:p.Phe346Val
ENST00000267620.14:c.1159T>G	ENSP00000267620.10:p.Phe387Val
ENST00000342058.8:c.1036T>G	ENSP00000345008.4:p.Phe346Val
ENST00000554121.2:n.162T>G
ENST00000556154.5:c.1051T>G	ENSP00000451982.1:p.Phe351Val
NM_006329.3:c.1036T>G , LRG_364t1:c.1036T>G	NP_006320.2:p.Phe346Val
XM_005267267.3:c.1087T>G	XP_005267324.1:p.Phe363Val
XM_011536356.1:c.1087T>G	XP_011534658.1:p.Phe363Val
XM_011536357.1:c.1036T>G	XP_011534659.1:p.Phe346Val
XM_011536358.1:c.868T>G	XP_011534660.1:p.Phe290Val
XM_011536357.2:c.1036T>G	XP_011534659.1:p.Phe346Val
XM_011536358.2:c.868T>G	XP_011534660.1:p.Phe290Val
XM_017020929.2:c.868T>G	XP_016876418.1:p.Phe290Val
NM_001384158.1:c.1159T>G	NP_001371087.1:p.Phe387Val
NM_001384159.1:c.1087T>G	NP_001371088.1:p.Phe363Val
NM_001384160.1:c.1036T>G	NP_001371089.1:p.Phe346Val
NM_001384161.1:c.868T>G	NP_001371090.1:p.Phe290Val
NM_001384162.1:c.868T>G	NP_001371091.1:p.Phe290Val
NM_006329.4:c.1036T>G MANE Select	NP_006320.2:p.Phe346Val