Canonical Allele Identifier: CA2155139536

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877626A= , CM000676.2:g.91877626A=	GRCh38
NC_000014.8:g.92343970A= , CM000676.1:g.92343970A=	GRCh37
NC_000014.7:g.91413723A=	NCBI36
NG_008254.1:g.75077T= , LRG_364:g.75077T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1012T=	ENSP00000451002.1:n.*1012T=
ENST00000557570.2:c.878T=	ENSP00000450787.2:p.Leu293=
ENST00000706675.1:n.861T=
ENST00000706676.1:c.1220T=	ENSP00000516492.1:p.Leu407=
ENST00000706677.1:c.1046T=	ENSP00000516493.1:p.Leu349=
ENST00000706678.1:n.966T=
ENST00000706679.1:c.878T=	ENSP00000516494.1:p.Leu293=
ENST00000706680.1:c.*889T=	ENSP00000516495.1:n.*889T=
ENST00000706681.1:c.*785T=	ENSP00000516496.1:n.*785T=
ENST00000342058.9:c.1046T= MANE Select	ENSP00000345008.4:p.Leu349=
ENST00000267620.14:c.1169T=	ENSP00000267620.10:p.Leu390=
ENST00000342058.8:c.1046T=	ENSP00000345008.4:p.Leu349=
ENST00000554121.2:n.172T=
ENST00000556154.5:c.1061T=	ENSP00000451982.1:p.Leu354=
NM_006329.3:c.1046T= , LRG_364t1:c.1046T=	NP_006320.2:p.Leu349=
XM_005267267.3:c.1097T=	XP_005267324.1:p.Leu366=
XM_011536356.1:c.1097T=	XP_011534658.1:p.Leu366=
XM_011536357.1:c.1046T=	XP_011534659.1:p.Leu349=
XM_011536358.1:c.878T=	XP_011534660.1:p.Leu293=
XM_011536357.2:c.1046T=	XP_011534659.1:p.Leu349=
XM_011536358.2:c.878T=	XP_011534660.1:p.Leu293=
XM_017020929.2:c.878T=	XP_016876418.1:p.Leu293=
NM_001384158.1:c.1169T=	NP_001371087.1:p.Leu390=
NM_001384159.1:c.1097T=	NP_001371088.1:p.Leu366=
NM_001384160.1:c.1046T=	NP_001371089.1:p.Leu349=
NM_001384161.1:c.878T=	NP_001371090.1:p.Leu293=
NM_001384162.1:c.878T=	NP_001371091.1:p.Leu293=
NM_006329.4:c.1046T= MANE Select	NP_006320.2:p.Leu349=