Canonical Allele Identifier: CA390640824
Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1721566
ClinVar RCV Id: RCV002300523

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91877606C>A , CM000676.2:g.91877606C>A GRCh38
NC_000014.8:g.92343950C>A , CM000676.1:g.92343950C>A GRCh37
NC_000014.7:g.91413703C>A NCBI36
NG_008254.1:g.75097G>T , LRG_364:g.75097G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000557088.6:c.*1032G>T ENSP00000451002.1:n.*1032G>T
ENST00000557570.2:c.898G>T ENSP00000450787.2:p.Val300Leu
ENST00000706675.1:n.881G>T
ENST00000706676.1:c.1240G>T ENSP00000516492.1:p.Val414Leu
ENST00000706677.1:c.1066G>T ENSP00000516493.1:p.Val356Leu
ENST00000706678.1:n.986G>T
ENST00000706679.1:c.898G>T ENSP00000516494.1:p.Val300Leu
ENST00000706680.1:c.*909G>T ENSP00000516495.1:n.*909G>T
ENST00000706681.1:c.*805G>T ENSP00000516496.1:n.*805G>T
ENST00000342058.9:c.1066G>T MANE Select ENSP00000345008.4:p.Val356Leu
ENST00000267620.14:c.1189G>T ENSP00000267620.10:p.Val397Leu
ENST00000342058.8:c.1066G>T ENSP00000345008.4:p.Val356Leu
ENST00000554121.2:n.192G>T
ENST00000556154.5:c.1081G>T ENSP00000451982.1:p.Val361Leu
NM_006329.3:c.1066G>T , LRG_364t1:c.1066G>T NP_006320.2:p.Val356Leu
XM_005267267.3:c.1117G>T XP_005267324.1:p.Val373Leu
XM_011536356.1:c.1117G>T XP_011534658.1:p.Val373Leu
XM_011536357.1:c.1066G>T XP_011534659.1:p.Val356Leu
XM_011536358.1:c.898G>T XP_011534660.1:p.Val300Leu
XM_011536357.2:c.1066G>T XP_011534659.1:p.Val356Leu
XM_011536358.2:c.898G>T XP_011534660.1:p.Val300Leu
XM_017020929.2:c.898G>T XP_016876418.1:p.Val300Leu
NM_001384158.1:c.1189G>T NP_001371087.1:p.Val397Leu
NM_001384159.1:c.1117G>T NP_001371088.1:p.Val373Leu
NM_001384160.1:c.1066G>T NP_001371089.1:p.Val356Leu
NM_001384161.1:c.898G>T NP_001371090.1:p.Val300Leu
NM_001384162.1:c.898G>T NP_001371091.1:p.Val300Leu
NM_006329.4:c.1066G>T MANE Select NP_006320.2:p.Val356Leu