Canonical Allele Identifier: CA7312787

Gene: FBLN5

Linked Data

• dbSNP Id: rs748165223
• ExAC: 14:92353700 A / C
• gnomAD v2: 14-92353700-A-C
• gnomAD v4: 14-91887356-A-C
• MyVariant Identifiers: chr14:g.92353700A>C (hg19) ; chr14:g.91887356A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887356A>C , CM000676.2:g.91887356A>C	GRCh38
NC_000014.8:g.92353700A>C , CM000676.1:g.92353700A>C	GRCh37
NC_000014.7:g.91423453A>C	NCBI36
NG_008254.1:g.65347T>G , LRG_364:g.65347T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*586-44T>G	ENSP00000451002.1:n.*586-44T>G
ENST00000557570.2:c.452-44T>G	ENSP00000450787.2:n.452-44T>G
ENST00000706676.1:c.794-44T>G	ENSP00000516492.1:n.794-44T>G
ENST00000706677.1:c.620-44T>G	ENSP00000516493.1:n.620-44T>G
ENST00000706678.1:n.540-44T>G
ENST00000706679.1:c.452-44T>G	ENSP00000516494.1:n.452-44T>G
ENST00000706680.1:c.*463-44T>G	ENSP00000516495.1:n.*463-44T>G
ENST00000706681.1:c.*359-44T>G	ENSP00000516496.1:n.*359-44T>G
ENST00000342058.9:c.620-44T>G MANE Select	ENSP00000345008.4:n.620-44T>G
ENST00000267620.14:c.743-44T>G	ENSP00000267620.10:n.743-44T>G
ENST00000342058.8:c.620-44T>G	ENSP00000345008.4:n.620-44T>G
ENST00000556154.5:c.635-44T>G	ENSP00000451982.1:n.635-44T>G
NM_006329.3:c.620-44T>G , LRG_364t1:c.620-44T>G	NP_006320.2:n.620-44T>G
XM_005267267.3:c.671-44T>G	XP_005267324.1:n.671-44T>G
XM_011536356.1:c.671-44T>G	XP_011534658.1:n.671-44T>G
XM_011536357.1:c.620-44T>G	XP_011534659.1:n.620-44T>G
XM_011536358.1:c.452-44T>G	XP_011534660.1:n.452-44T>G
XM_011536357.2:c.620-44T>G	XP_011534659.1:n.620-44T>G
XM_011536358.2:c.452-44T>G	XP_011534660.1:n.452-44T>G
XM_017020929.2:c.452-44T>G	XP_016876418.1:n.452-44T>G
NM_001384158.1:c.743-44T>G	NP_001371087.1:n.743-44T>G
NM_001384159.1:c.671-44T>G	NP_001371088.1:n.671-44T>G
NM_001384160.1:c.620-44T>G	NP_001371089.1:n.620-44T>G
NM_001384161.1:c.452-44T>G	NP_001371090.1:n.452-44T>G
NM_001384162.1:c.452-44T>G	NP_001371091.1:n.452-44T>G
NM_006329.4:c.620-44T>G MANE Select	NP_006320.2:n.620-44T>G