Canonical Allele Identifier: CA390640525

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 2955023
• ClinVar RCV Id: RCV003818198
• MyVariant Identifiers: chr14:g.92343878T>C (hg19) ; chr14:g.91877534T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877534T>C , CM000676.2:g.91877534T>C	GRCh38
NC_000014.8:g.92343878T>C , CM000676.1:g.92343878T>C	GRCh37
NC_000014.7:g.91413631T>C	NCBI36
NG_008254.1:g.75169A>G , LRG_364:g.75169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1104A>G	ENSP00000451002.1:n.*1104A>G
ENST00000557570.2:c.970A>G	ENSP00000450787.2:p.Ile324Val
ENST00000706675.1:n.953A>G
ENST00000706676.1:c.1312A>G	ENSP00000516492.1:p.Ile438Val
ENST00000706677.1:c.1138A>G	ENSP00000516493.1:p.Ile380Val
ENST00000706678.1:n.1058A>G
ENST00000706679.1:c.970A>G	ENSP00000516494.1:p.Ile324Val
ENST00000706680.1:c.*981A>G	ENSP00000516495.1:n.*981A>G
ENST00000706681.1:c.*877A>G	ENSP00000516496.1:n.*877A>G
ENST00000342058.9:c.1138A>G MANE Select	ENSP00000345008.4:p.Ile380Val
ENST00000267620.14:c.1261A>G	ENSP00000267620.10:p.Ile421Val
ENST00000342058.8:c.1138A>G	ENSP00000345008.4:p.Ile380Val
ENST00000554121.2:n.264A>G
ENST00000556154.5:c.1153A>G	ENSP00000451982.1:p.Ile385Val
NM_006329.3:c.1138A>G , LRG_364t1:c.1138A>G	NP_006320.2:p.Ile380Val
XM_005267267.3:c.1189A>G	XP_005267324.1:p.Ile397Val
XM_011536356.1:c.1189A>G	XP_011534658.1:p.Ile397Val
XM_011536357.1:c.1138A>G	XP_011534659.1:p.Ile380Val
XM_011536358.1:c.970A>G	XP_011534660.1:p.Ile324Val
XM_011536357.2:c.1138A>G	XP_011534659.1:p.Ile380Val
XM_011536358.2:c.970A>G	XP_011534660.1:p.Ile324Val
XM_017020929.2:c.970A>G	XP_016876418.1:p.Ile324Val
NM_001384158.1:c.1261A>G	NP_001371087.1:p.Ile421Val
NM_001384159.1:c.1189A>G	NP_001371088.1:p.Ile397Val
NM_001384160.1:c.1138A>G	NP_001371089.1:p.Ile380Val
NM_001384161.1:c.970A>G	NP_001371090.1:p.Ile324Val
NM_001384162.1:c.970A>G	NP_001371091.1:p.Ile324Val
NM_006329.4:c.1138A>G MANE Select	NP_006320.2:p.Ile380Val