Canonical Allele Identifier: CA487567190

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92353610G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887266G>T , CM000676.2:g.91887266G>T	GRCh38
NC_000014.8:g.92353610G>T , CM000676.1:g.92353610G>T	GRCh37
NC_000014.7:g.91423363G>T	NCBI36
NG_008254.1:g.65437C>A , LRG_364:g.65437C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*632C>A	ENSP00000451002.1:n.*632C>A
ENST00000557570.2:c.498C>A	ENSP00000450787.2:p.Val166=
ENST00000706676.1:c.840C>A	ENSP00000516492.1:p.Val280=
ENST00000706677.1:c.666C>A	ENSP00000516493.1:p.Val222=
ENST00000706678.1:n.586C>A
ENST00000706679.1:c.498C>A	ENSP00000516494.1:p.Val166=
ENST00000706680.1:c.*509C>A	ENSP00000516495.1:n.*509C>A
ENST00000706681.1:c.*405C>A	ENSP00000516496.1:n.*405C>A
ENST00000342058.9:c.666C>A MANE Select	ENSP00000345008.4:p.Val222=
ENST00000267620.14:c.789C>A	ENSP00000267620.10:p.Val263=
ENST00000342058.8:c.666C>A	ENSP00000345008.4:p.Val222=
ENST00000556154.5:c.681C>A	ENSP00000451982.1:p.Val227=
NM_006329.3:c.666C>A , LRG_364t1:c.666C>A	NP_006320.2:p.Val222=
XM_005267267.3:c.717C>A	XP_005267324.1:p.Val239=
XM_011536356.1:c.717C>A	XP_011534658.1:p.Val239=
XM_011536357.1:c.666C>A	XP_011534659.1:p.Val222=
XM_011536358.1:c.498C>A	XP_011534660.1:p.Val166=
XM_011536357.2:c.666C>A	XP_011534659.1:p.Val222=
XM_011536358.2:c.498C>A	XP_011534660.1:p.Val166=
XM_017020929.2:c.498C>A	XP_016876418.1:p.Val166=
NM_001384158.1:c.789C>A	NP_001371087.1:p.Val263=
NM_001384159.1:c.717C>A	NP_001371088.1:p.Val239=
NM_001384160.1:c.666C>A	NP_001371089.1:p.Val222=
NM_001384161.1:c.498C>A	NP_001371090.1:p.Val166=
NM_001384162.1:c.498C>A	NP_001371091.1:p.Val166=
NM_006329.4:c.666C>A MANE Select	NP_006320.2:p.Val222=