Canonical Allele Identifier: CA213148
Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 5483
dbSNP Id: rs121434303

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91870336C>T , CM000676.2:g.91870336C>T GRCh38
NC_000014.8:g.92336680C>T , CM000676.1:g.92336680C>T GRCh37
NC_000014.7:g.91406433C>T NCBI36
NG_008254.1:g.82367G>A , LRG_364:g.82367G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000557088.6:c.*1201G>A ENSP00000451002.1:n.*1201G>A
ENST00000557570.2:c.1067G>A ENSP00000450787.2:p.Gly356Glu
ENST00000706675.1:n.1050G>A
ENST00000706676.1:c.1409G>A ENSP00000516492.1:p.Gly470Glu
ENST00000706677.1:c.*19G>A ENSP00000516493.1:n.*19G>A
ENST00000706678.1:n.1155G>A
ENST00000706679.1:c.1067G>A ENSP00000516494.1:p.Gly356Glu
ENST00000706680.1:c.*1078G>A ENSP00000516495.1:n.*1078G>A
ENST00000706681.1:c.*974G>A ENSP00000516496.1:n.*974G>A
ENST00000342058.9:c.1235G>A MANE Select ENSP00000345008.4:p.Gly412Glu
ENST00000267620.14:c.1358G>A ENSP00000267620.10:p.Gly453Glu
ENST00000342058.8:c.1235G>A ENSP00000345008.4:p.Gly412Glu
ENST00000554121.2:n.361G>A
ENST00000556154.5:c.1250G>A ENSP00000451982.1:p.Gly417Glu
ENST00000556961.1:n.1370G>A
NM_006329.3:c.1235G>A , LRG_364t1:c.1235G>A NP_006320.2:p.Gly412Glu
XM_005267267.3:c.1286G>A XP_005267324.1:p.Gly429Glu
XM_011536356.1:c.*19G>A XP_011534658.1:n.*19G>A
XM_011536357.1:c.*19G>A XP_011534659.1:n.*19G>A
XM_011536358.1:c.*19G>A XP_011534660.1:n.*19G>A
XM_011536357.2:c.*19G>A XP_011534659.1:n.*19G>A
XM_011536358.2:c.*19G>A XP_011534660.1:n.*19G>A
XM_017020929.2:c.1067G>A XP_016876418.1:p.Gly356Glu
NM_001384158.1:c.1358G>A NP_001371087.1:p.Gly453Glu
NM_001384159.1:c.1286G>A NP_001371088.1:p.Gly429Glu
NM_001384160.1:c.*19G>A NP_001371089.1:n.*19G>A
NM_001384161.1:c.*19G>A NP_001371090.1:n.*19G>A
NM_001384162.1:c.1067G>A NP_001371091.1:p.Gly356Glu
NM_006329.4:c.1235G>A MANE Select NP_006320.2:p.Gly412Glu