Canonical Allele Identifier: CA487566370

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92336610G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870266G>T , CM000676.2:g.91870266G>T	GRCh38
NC_000014.8:g.92336610G>T , CM000676.1:g.92336610G>T	GRCh37
NC_000014.7:g.91406363G>T	NCBI36
NG_008254.1:g.82437C>A , LRG_364:g.82437C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1271C>A	ENSP00000451002.1:n.*1271C>A
ENST00000557570.2:c.1137C>A	ENSP00000450787.2:p.Ser379=
ENST00000706675.1:n.1120C>A
ENST00000706676.1:c.1479C>A	ENSP00000516492.1:p.Ser493=
ENST00000706677.1:c.*89C>A	ENSP00000516493.1:n.*89C>A
ENST00000706678.1:n.1225C>A
ENST00000706679.1:c.1137C>A	ENSP00000516494.1:p.Ser379=
ENST00000706680.1:c.*1148C>A	ENSP00000516495.1:n.*1148C>A
ENST00000706681.1:c.*1044C>A	ENSP00000516496.1:n.*1044C>A
ENST00000342058.9:c.1305C>A MANE Select	ENSP00000345008.4:p.Ser435=
ENST00000267620.14:c.1428C>A	ENSP00000267620.10:p.Ser476=
ENST00000342058.8:c.1305C>A	ENSP00000345008.4:p.Ser435=
ENST00000554121.2:n.431C>A
ENST00000556154.5:c.1320C>A	ENSP00000451982.1:p.Ser440=
ENST00000556961.1:n.1440C>A
NM_006329.3:c.1305C>A , LRG_364t1:c.1305C>A	NP_006320.2:p.Ser435=
XM_005267267.3:c.1356C>A	XP_005267324.1:p.Ser452=
XM_011536356.1:c.*89C>A	XP_011534658.1:n.*89C>A
XM_011536357.1:c.*89C>A	XP_011534659.1:n.*89C>A
XM_011536358.1:c.*89C>A	XP_011534660.1:n.*89C>A
XM_011536357.2:c.*89C>A	XP_011534659.1:n.*89C>A
XM_011536358.2:c.*89C>A	XP_011534660.1:n.*89C>A
XM_017020929.2:c.1137C>A	XP_016876418.1:p.Ser379=
NM_001384158.1:c.1428C>A	NP_001371087.1:p.Ser476=
NM_001384159.1:c.1356C>A	NP_001371088.1:p.Ser452=
NM_001384160.1:c.*89C>A	NP_001371089.1:n.*89C>A
NM_001384161.1:c.*89C>A	NP_001371090.1:n.*89C>A
NM_001384162.1:c.1137C>A	NP_001371091.1:p.Ser379=
NM_006329.4:c.1305C>A MANE Select	NP_006320.2:p.Ser435=