Canonical Allele Identifier: CA487566698

Gene: FBLN5

Linked Data

• MyVariant Identifiers: chr14:g.92343897G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877553G>A , CM000676.2:g.91877553G>A	GRCh38
NC_000014.8:g.92343897G>A , CM000676.1:g.92343897G>A	GRCh37
NC_000014.7:g.91413650G>A	NCBI36
NG_008254.1:g.75150C>T , LRG_364:g.75150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1085C>T	ENSP00000451002.1:n.*1085C>T
ENST00000557570.2:c.951C>T	ENSP00000450787.2:p.Arg317=
ENST00000706675.1:n.934C>T
ENST00000706676.1:c.1293C>T	ENSP00000516492.1:p.Arg431=
ENST00000706677.1:c.1119C>T	ENSP00000516493.1:p.Arg373=
ENST00000706678.1:n.1039C>T
ENST00000706679.1:c.951C>T	ENSP00000516494.1:p.Arg317=
ENST00000706680.1:c.*962C>T	ENSP00000516495.1:n.*962C>T
ENST00000706681.1:c.*858C>T	ENSP00000516496.1:n.*858C>T
ENST00000342058.9:c.1119C>T MANE Select	ENSP00000345008.4:p.Arg373=
ENST00000267620.14:c.1242C>T	ENSP00000267620.10:p.Arg414=
ENST00000342058.8:c.1119C>T	ENSP00000345008.4:p.Arg373=
ENST00000554121.2:n.245C>T
ENST00000556154.5:c.1134C>T	ENSP00000451982.1:p.Arg378=
NM_006329.3:c.1119C>T , LRG_364t1:c.1119C>T	NP_006320.2:p.Arg373=
XM_005267267.3:c.1170C>T	XP_005267324.1:p.Arg390=
XM_011536356.1:c.1170C>T	XP_011534658.1:p.Arg390=
XM_011536357.1:c.1119C>T	XP_011534659.1:p.Arg373=
XM_011536358.1:c.951C>T	XP_011534660.1:p.Arg317=
XM_011536357.2:c.1119C>T	XP_011534659.1:p.Arg373=
XM_011536358.2:c.951C>T	XP_011534660.1:p.Arg317=
XM_017020929.2:c.951C>T	XP_016876418.1:p.Arg317=
NM_001384158.1:c.1242C>T	NP_001371087.1:p.Arg414=
NM_001384159.1:c.1170C>T	NP_001371088.1:p.Arg390=
NM_001384160.1:c.1119C>T	NP_001371089.1:p.Arg373=
NM_001384161.1:c.951C>T	NP_001371090.1:p.Arg317=
NM_001384162.1:c.951C>T	NP_001371091.1:p.Arg317=
NM_006329.4:c.1119C>T MANE Select	NP_006320.2:p.Arg373=