Canonical Allele Identifier: CA7312609
Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1320391
ClinVar RCV Id: RCV001776370
dbSNP Id: rs780349776

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91877498A>G , CM000676.2:g.91877498A>G GRCh38
NC_000014.8:g.92343842A>G , CM000676.1:g.92343842A>G GRCh37
NC_000014.7:g.91413595A>G NCBI36
NG_008254.1:g.75205T>C , LRG_364:g.75205T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000557088.6:c.*1140T>C ENSP00000451002.1:n.*1140T>C
ENST00000557570.2:c.1006T>C ENSP00000450787.2:p.Phe336Leu
ENST00000706675.1:n.989T>C
ENST00000706676.1:c.1348T>C ENSP00000516492.1:p.Phe450Leu
ENST00000706677.1:c.1174T>C ENSP00000516493.1:p.Phe392Leu
ENST00000706678.1:n.1094T>C
ENST00000706679.1:c.1006T>C ENSP00000516494.1:p.Phe336Leu
ENST00000706680.1:c.*1017T>C ENSP00000516495.1:n.*1017T>C
ENST00000706681.1:c.*913T>C ENSP00000516496.1:n.*913T>C
ENST00000342058.9:c.1174T>C MANE Select ENSP00000345008.4:p.Phe392Leu
ENST00000267620.14:c.1297T>C ENSP00000267620.10:p.Phe433Leu
ENST00000342058.8:c.1174T>C ENSP00000345008.4:p.Phe392Leu
ENST00000554121.2:n.300T>C
ENST00000556154.5:c.1189T>C ENSP00000451982.1:p.Phe397Leu
NM_006329.3:c.1174T>C , LRG_364t1:c.1174T>C NP_006320.2:p.Phe392Leu
XM_005267267.3:c.1225T>C XP_005267324.1:p.Phe409Leu
XM_011536356.1:c.1225T>C XP_011534658.1:p.Phe409Leu
XM_011536357.1:c.1174T>C XP_011534659.1:p.Phe392Leu
XM_011536358.1:c.1006T>C XP_011534660.1:p.Phe336Leu
XM_011536357.2:c.1174T>C XP_011534659.1:p.Phe392Leu
XM_011536358.2:c.1006T>C XP_011534660.1:p.Phe336Leu
XM_017020929.2:c.1006T>C XP_016876418.1:p.Phe336Leu
NM_001384158.1:c.1297T>C NP_001371087.1:p.Phe433Leu
NM_001384159.1:c.1225T>C NP_001371088.1:p.Phe409Leu
NM_001384160.1:c.1174T>C NP_001371089.1:p.Phe392Leu
NM_001384161.1:c.1006T>C NP_001371090.1:p.Phe336Leu
NM_001384162.1:c.1006T>C NP_001371091.1:p.Phe336Leu
NM_006329.4:c.1174T>C MANE Select NP_006320.2:p.Phe392Leu