Canonical Allele Identifier: CA390642666

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91887256-C-G
• MyVariant Identifiers: chr14:g.92353600C>G (hg19) ; chr14:g.91887256C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887256C>G , CM000676.2:g.91887256C>G	GRCh38
NC_000014.8:g.92353600C>G , CM000676.1:g.92353600C>G	GRCh37
NC_000014.7:g.91423353C>G	NCBI36
NG_008254.1:g.65447G>C , LRG_364:g.65447G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*642G>C	ENSP00000451002.1:n.*642G>C
ENST00000557570.2:c.508G>C	ENSP00000450787.2:p.Gly170Arg
ENST00000706676.1:c.850G>C	ENSP00000516492.1:p.Gly284Arg
ENST00000706677.1:c.676G>C	ENSP00000516493.1:p.Gly226Arg
ENST00000706678.1:n.596G>C
ENST00000706679.1:c.508G>C	ENSP00000516494.1:p.Gly170Arg
ENST00000706680.1:c.*519G>C	ENSP00000516495.1:n.*519G>C
ENST00000706681.1:c.*415G>C	ENSP00000516496.1:n.*415G>C
ENST00000342058.9:c.676G>C MANE Select	ENSP00000345008.4:p.Gly226Arg
ENST00000267620.14:c.799G>C	ENSP00000267620.10:p.Gly267Arg
ENST00000342058.8:c.676G>C	ENSP00000345008.4:p.Gly226Arg
ENST00000556154.5:c.691G>C	ENSP00000451982.1:p.Gly231Arg
NM_006329.3:c.676G>C , LRG_364t1:c.676G>C	NP_006320.2:p.Gly226Arg
XM_005267267.3:c.727G>C	XP_005267324.1:p.Gly243Arg
XM_011536356.1:c.727G>C	XP_011534658.1:p.Gly243Arg
XM_011536357.1:c.676G>C	XP_011534659.1:p.Gly226Arg
XM_011536358.1:c.508G>C	XP_011534660.1:p.Gly170Arg
XM_011536357.2:c.676G>C	XP_011534659.1:p.Gly226Arg
XM_011536358.2:c.508G>C	XP_011534660.1:p.Gly170Arg
XM_017020929.2:c.508G>C	XP_016876418.1:p.Gly170Arg
NM_001384158.1:c.799G>C	NP_001371087.1:p.Gly267Arg
NM_001384159.1:c.727G>C	NP_001371088.1:p.Gly243Arg
NM_001384160.1:c.676G>C	NP_001371089.1:p.Gly226Arg
NM_001384161.1:c.508G>C	NP_001371090.1:p.Gly170Arg
NM_001384162.1:c.508G>C	NP_001371091.1:p.Gly170Arg
NM_006329.4:c.676G>C MANE Select	NP_006320.2:p.Gly226Arg