Canonical Allele Identifier: CA7312563

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 1519869
• ClinVar RCV Id: RCV002024827
• dbSNP Id: rs753495990
• ExAC: 14:92336592 T / C
• gnomAD v2: 14-92336592-T-C
• gnomAD v3: 14-91870248-T-C
• gnomAD v4: 14-91870248-T-C
• MyVariant Identifiers: chr14:g.92336592T>C (hg19) ; chr14:g.91870248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870248T>C , CM000676.2:g.91870248T>C	GRCh38
NC_000014.8:g.92336592T>C , CM000676.1:g.92336592T>C	GRCh37
NC_000014.7:g.91406345T>C	NCBI36
NG_008254.1:g.82455A>G , LRG_364:g.82455A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1289A>G	ENSP00000451002.1:n.*1289A>G
ENST00000557570.2:c.1155A>G	ENSP00000450787.2:p.Ile385Met
ENST00000706675.1:n.1138A>G
ENST00000706676.1:c.1497A>G	ENSP00000516492.1:p.Ile499Met
ENST00000706677.1:c.*107A>G	ENSP00000516493.1:n.*107A>G
ENST00000706678.1:n.1243A>G
ENST00000706679.1:c.1155A>G	ENSP00000516494.1:p.Ile385Met
ENST00000706680.1:c.*1166A>G	ENSP00000516495.1:n.*1166A>G
ENST00000706681.1:c.*1062A>G	ENSP00000516496.1:n.*1062A>G
ENST00000342058.9:c.1323A>G MANE Select	ENSP00000345008.4:p.Ile441Met
ENST00000267620.14:c.1446A>G	ENSP00000267620.10:p.Ile482Met
ENST00000342058.8:c.1323A>G	ENSP00000345008.4:p.Ile441Met
ENST00000554121.2:n.449A>G
ENST00000556154.5:c.1338A>G	ENSP00000451982.1:p.Ile446Met
ENST00000556961.1:n.1458A>G
NM_006329.3:c.1323A>G , LRG_364t1:c.1323A>G	NP_006320.2:p.Ile441Met
XM_005267267.3:c.1374A>G	XP_005267324.1:p.Ile458Met
XM_011536356.1:c.*107A>G	XP_011534658.1:n.*107A>G
XM_011536357.1:c.*107A>G	XP_011534659.1:n.*107A>G
XM_011536358.1:c.*107A>G	XP_011534660.1:n.*107A>G
XM_011536357.2:c.*107A>G	XP_011534659.1:n.*107A>G
XM_011536358.2:c.*107A>G	XP_011534660.1:n.*107A>G
XM_017020929.2:c.1155A>G	XP_016876418.1:p.Ile385Met
NM_001384158.1:c.1446A>G	NP_001371087.1:p.Ile482Met
NM_001384159.1:c.1374A>G	NP_001371088.1:p.Ile458Met
NM_001384160.1:c.*107A>G	NP_001371089.1:n.*107A>G
NM_001384161.1:c.*107A>G	NP_001371090.1:n.*107A>G
NM_001384162.1:c.1155A>G	NP_001371091.1:p.Ile385Met
NM_006329.4:c.1323A>G MANE Select	NP_006320.2:p.Ile441Met