Canonical Allele Identifier: CA390640439

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 2805974
• ClinVar RCV Id: RCV003679496
• MyVariant Identifiers: chr14:g.92343841A>C (hg19) ; chr14:g.91877497A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877497A>C , CM000676.2:g.91877497A>C	GRCh38
NC_000014.8:g.92343841A>C , CM000676.1:g.92343841A>C	GRCh37
NC_000014.7:g.91413594A>C	NCBI36
NG_008254.1:g.75206T>G , LRG_364:g.75206T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*1141T>G	ENSP00000451002.1:n.*1141T>G
ENST00000557570.2:c.1007T>G	ENSP00000450787.2:p.Phe336Cys
ENST00000706675.1:n.990T>G
ENST00000706676.1:c.1349T>G	ENSP00000516492.1:p.Phe450Cys
ENST00000706677.1:c.1175T>G	ENSP00000516493.1:p.Phe392Cys
ENST00000706678.1:n.1095T>G
ENST00000706679.1:c.1007T>G	ENSP00000516494.1:p.Phe336Cys
ENST00000706680.1:c.*1018T>G	ENSP00000516495.1:n.*1018T>G
ENST00000706681.1:c.*914T>G	ENSP00000516496.1:n.*914T>G
ENST00000342058.9:c.1175T>G MANE Select	ENSP00000345008.4:p.Phe392Cys
ENST00000267620.14:c.1298T>G	ENSP00000267620.10:p.Phe433Cys
ENST00000342058.8:c.1175T>G	ENSP00000345008.4:p.Phe392Cys
ENST00000554121.2:n.301T>G
ENST00000556154.5:c.1190T>G	ENSP00000451982.1:p.Phe397Cys
NM_006329.3:c.1175T>G , LRG_364t1:c.1175T>G	NP_006320.2:p.Phe392Cys
XM_005267267.3:c.1226T>G	XP_005267324.1:p.Phe409Cys
XM_011536356.1:c.1226T>G	XP_011534658.1:p.Phe409Cys
XM_011536357.1:c.1175T>G	XP_011534659.1:p.Phe392Cys
XM_011536358.1:c.1007T>G	XP_011534660.1:p.Phe336Cys
XM_011536357.2:c.1175T>G	XP_011534659.1:p.Phe392Cys
XM_011536358.2:c.1007T>G	XP_011534660.1:p.Phe336Cys
XM_017020929.2:c.1007T>G	XP_016876418.1:p.Phe336Cys
NM_001384158.1:c.1298T>G	NP_001371087.1:p.Phe433Cys
NM_001384159.1:c.1226T>G	NP_001371088.1:p.Phe409Cys
NM_001384160.1:c.1175T>G	NP_001371089.1:p.Phe392Cys
NM_001384161.1:c.1007T>G	NP_001371090.1:p.Phe336Cys
NM_001384162.1:c.1007T>G	NP_001371091.1:p.Phe336Cys
NM_006329.4:c.1175T>G MANE Select	NP_006320.2:p.Phe392Cys