Canonical Allele Identifier: CA390638980

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92336587A>G (hg19) ; chr14:g.91870243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870243A>G , CM000676.2:g.91870243A>G	GRCh38
NC_000014.8:g.92336587A>G , CM000676.1:g.92336587A>G	GRCh37
NC_000014.7:g.91406340A>G	NCBI36
NG_008254.1:g.82460T>C , LRG_364:g.82460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1294T>C	ENSP00000451002.1:n.*1294T>C
ENST00000557570.2:c.1160T>C	ENSP00000450787.2:p.Val387Ala
ENST00000706675.1:n.1143T>C
ENST00000706676.1:c.1502T>C	ENSP00000516492.1:p.Val501Ala
ENST00000706677.1:c.*112T>C	ENSP00000516493.1:n.*112T>C
ENST00000706678.1:n.1248T>C
ENST00000706679.1:c.1160T>C	ENSP00000516494.1:p.Val387Ala
ENST00000706680.1:c.*1171T>C	ENSP00000516495.1:n.*1171T>C
ENST00000706681.1:c.*1067T>C	ENSP00000516496.1:n.*1067T>C
ENST00000342058.9:c.1328T>C MANE Select	ENSP00000345008.4:p.Val443Ala
ENST00000267620.14:c.1451T>C	ENSP00000267620.10:p.Val484Ala
ENST00000342058.8:c.1328T>C	ENSP00000345008.4:p.Val443Ala
ENST00000554121.2:n.454T>C
ENST00000556154.5:c.1343T>C	ENSP00000451982.1:p.Val448Ala
ENST00000556961.1:n.1463T>C
NM_006329.3:c.1328T>C , LRG_364t1:c.1328T>C	NP_006320.2:p.Val443Ala
XM_005267267.3:c.1379T>C	XP_005267324.1:p.Val460Ala
XM_011536356.1:c.*112T>C	XP_011534658.1:n.*112T>C
XM_011536357.1:c.*112T>C	XP_011534659.1:n.*112T>C
XM_011536358.1:c.*112T>C	XP_011534660.1:n.*112T>C
XM_011536357.2:c.*112T>C	XP_011534659.1:n.*112T>C
XM_011536358.2:c.*112T>C	XP_011534660.1:n.*112T>C
XM_017020929.2:c.1160T>C	XP_016876418.1:p.Val387Ala
NM_001384158.1:c.1451T>C	NP_001371087.1:p.Val484Ala
NM_001384159.1:c.1379T>C	NP_001371088.1:p.Val460Ala
NM_001384160.1:c.*112T>C	NP_001371089.1:n.*112T>C
NM_001384161.1:c.*112T>C	NP_001371090.1:n.*112T>C
NM_001384162.1:c.1160T>C	NP_001371091.1:p.Val387Ala
NM_006329.4:c.1328T>C MANE Select	NP_006320.2:p.Val443Ala