Canonical Allele Identifier: CA2155133318

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870244C= , CM000676.2:g.91870244C=	GRCh38
NC_000014.8:g.92336588C= , CM000676.1:g.92336588C=	GRCh37
NC_000014.7:g.91406341C=	NCBI36
NG_008254.1:g.82459G= , LRG_364:g.82459G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1293G=	ENSP00000451002.1:n.*1293G=
ENST00000557570.2:c.1159G=	ENSP00000450787.2:p.Val387=
ENST00000706675.1:n.1142G=
ENST00000706676.1:c.1501G=	ENSP00000516492.1:p.Val501=
ENST00000706677.1:c.*111G=	ENSP00000516493.1:n.*111G=
ENST00000706678.1:n.1247G=
ENST00000706679.1:c.1159G=	ENSP00000516494.1:p.Val387=
ENST00000706680.1:c.*1170G=	ENSP00000516495.1:n.*1170G=
ENST00000706681.1:c.*1066G=	ENSP00000516496.1:n.*1066G=
ENST00000342058.9:c.1327G= MANE Select	ENSP00000345008.4:p.Val443=
ENST00000267620.14:c.1450G=	ENSP00000267620.10:p.Val484=
ENST00000342058.8:c.1327G=	ENSP00000345008.4:p.Val443=
ENST00000554121.2:n.453G=
ENST00000556154.5:c.1342G=	ENSP00000451982.1:p.Val448=
ENST00000556961.1:n.1462G=
NM_006329.3:c.1327G= , LRG_364t1:c.1327G=	NP_006320.2:p.Val443=
XM_005267267.3:c.1378G=	XP_005267324.1:p.Val460=
XM_011536356.1:c.*111G=	XP_011534658.1:n.*111G=
XM_011536357.1:c.*111G=	XP_011534659.1:n.*111G=
XM_011536358.1:c.*111G=	XP_011534660.1:n.*111G=
XM_011536357.2:c.*111G=	XP_011534659.1:n.*111G=
XM_011536358.2:c.*111G=	XP_011534660.1:n.*111G=
XM_017020929.2:c.1159G=	XP_016876418.1:p.Val387=
NM_001384158.1:c.1450G=	NP_001371087.1:p.Val484=
NM_001384159.1:c.1378G=	NP_001371088.1:p.Val460=
NM_001384160.1:c.*111G=	NP_001371089.1:n.*111G=
NM_001384161.1:c.*111G=	NP_001371090.1:n.*111G=
NM_001384162.1:c.1159G=	NP_001371091.1:p.Val387=
NM_006329.4:c.1327G= MANE Select	NP_006320.2:p.Val443=