Canonical Allele Identifier: CA2155139562

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877647C= , CM000676.2:g.91877647C=	GRCh38
NC_000014.8:g.92343991C= , CM000676.1:g.92343991C=	GRCh37
NC_000014.7:g.91413744C=	NCBI36
NG_008254.1:g.75056G= , LRG_364:g.75056G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*991G=	ENSP00000451002.1:n.*991G=
ENST00000557570.2:c.857G=	ENSP00000450787.2:p.Arg286=
ENST00000706675.1:n.840G=
ENST00000706676.1:c.1199G=	ENSP00000516492.1:p.Arg400=
ENST00000706677.1:c.1025G=	ENSP00000516493.1:p.Arg342=
ENST00000706678.1:n.945G=
ENST00000706679.1:c.857G=	ENSP00000516494.1:p.Arg286=
ENST00000706680.1:c.*868G=	ENSP00000516495.1:n.*868G=
ENST00000706681.1:c.*764G=	ENSP00000516496.1:n.*764G=
ENST00000342058.9:c.1025G= MANE Select	ENSP00000345008.4:p.Arg342=
ENST00000267620.14:c.1148G=	ENSP00000267620.10:p.Arg383=
ENST00000342058.8:c.1025G=	ENSP00000345008.4:p.Arg342=
ENST00000554121.2:n.151G=
ENST00000556154.5:c.1040G=	ENSP00000451982.1:p.Arg347=
NM_006329.3:c.1025G= , LRG_364t1:c.1025G=	NP_006320.2:p.Arg342=
XM_005267267.3:c.1076G=	XP_005267324.1:p.Arg359=
XM_011536356.1:c.1076G=	XP_011534658.1:p.Arg359=
XM_011536357.1:c.1025G=	XP_011534659.1:p.Arg342=
XM_011536358.1:c.857G=	XP_011534660.1:p.Arg286=
XM_011536357.2:c.1025G=	XP_011534659.1:p.Arg342=
XM_011536358.2:c.857G=	XP_011534660.1:p.Arg286=
XM_017020929.2:c.857G=	XP_016876418.1:p.Arg286=
NM_001384158.1:c.1148G=	NP_001371087.1:p.Arg383=
NM_001384159.1:c.1076G=	NP_001371088.1:p.Arg359=
NM_001384160.1:c.1025G=	NP_001371089.1:p.Arg342=
NM_001384161.1:c.857G=	NP_001371090.1:p.Arg286=
NM_001384162.1:c.857G=	NP_001371091.1:p.Arg286=
NM_006329.4:c.1025G= MANE Select	NP_006320.2:p.Arg342=