Canonical Allele Identifier: CA390641039

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343995A>G (hg19) ; chr14:g.91877651A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877651A>G , CM000676.2:g.91877651A>G	GRCh38
NC_000014.8:g.92343995A>G , CM000676.1:g.92343995A>G	GRCh37
NC_000014.7:g.91413748A>G	NCBI36
NG_008254.1:g.75052T>C , LRG_364:g.75052T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*987T>C	ENSP00000451002.1:n.*987T>C
ENST00000557570.2:c.853T>C	ENSP00000450787.2:p.Cys285Arg
ENST00000706675.1:n.836T>C
ENST00000706676.1:c.1195T>C	ENSP00000516492.1:p.Cys399Arg
ENST00000706677.1:c.1021T>C	ENSP00000516493.1:p.Cys341Arg
ENST00000706678.1:n.941T>C
ENST00000706679.1:c.853T>C	ENSP00000516494.1:p.Cys285Arg
ENST00000706680.1:c.*864T>C	ENSP00000516495.1:n.*864T>C
ENST00000706681.1:c.*760T>C	ENSP00000516496.1:n.*760T>C
ENST00000342058.9:c.1021T>C MANE Select	ENSP00000345008.4:p.Cys341Arg
ENST00000267620.14:c.1144T>C	ENSP00000267620.10:p.Cys382Arg
ENST00000342058.8:c.1021T>C	ENSP00000345008.4:p.Cys341Arg
ENST00000554121.2:n.147T>C
ENST00000556154.5:c.1036T>C	ENSP00000451982.1:p.Cys346Arg
NM_006329.3:c.1021T>C , LRG_364t1:c.1021T>C	NP_006320.2:p.Cys341Arg
XM_005267267.3:c.1072T>C	XP_005267324.1:p.Cys358Arg
XM_011536356.1:c.1072T>C	XP_011534658.1:p.Cys358Arg
XM_011536357.1:c.1021T>C	XP_011534659.1:p.Cys341Arg
XM_011536358.1:c.853T>C	XP_011534660.1:p.Cys285Arg
XM_011536357.2:c.1021T>C	XP_011534659.1:p.Cys341Arg
XM_011536358.2:c.853T>C	XP_011534660.1:p.Cys285Arg
XM_017020929.2:c.853T>C	XP_016876418.1:p.Cys285Arg
NM_001384158.1:c.1144T>C	NP_001371087.1:p.Cys382Arg
NM_001384159.1:c.1072T>C	NP_001371088.1:p.Cys358Arg
NM_001384160.1:c.1021T>C	NP_001371089.1:p.Cys341Arg
NM_001384161.1:c.853T>C	NP_001371090.1:p.Cys285Arg
NM_001384162.1:c.853T>C	NP_001371091.1:p.Cys285Arg
NM_006329.4:c.1021T>C MANE Select	NP_006320.2:p.Cys341Arg