Canonical Allele Identifier: CA2155133330

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870264A= , CM000676.2:g.91870264A=	GRCh38
NC_000014.8:g.92336608A= , CM000676.1:g.92336608A=	GRCh37
NC_000014.7:g.91406361A=	NCBI36
NG_008254.1:g.82439T= , LRG_364:g.82439T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1273T=	ENSP00000451002.1:n.*1273T=
ENST00000557570.2:c.1139T=	ENSP00000450787.2:p.Val380=
ENST00000706675.1:n.1122T=
ENST00000706676.1:c.1481T=	ENSP00000516492.1:p.Val494=
ENST00000706677.1:c.*91T=	ENSP00000516493.1:n.*91T=
ENST00000706678.1:n.1227T=
ENST00000706679.1:c.1139T=	ENSP00000516494.1:p.Val380=
ENST00000706680.1:c.*1150T=	ENSP00000516495.1:n.*1150T=
ENST00000706681.1:c.*1046T=	ENSP00000516496.1:n.*1046T=
ENST00000342058.9:c.1307T= MANE Select	ENSP00000345008.4:p.Val436=
ENST00000267620.14:c.1430T=	ENSP00000267620.10:p.Val477=
ENST00000342058.8:c.1307T=	ENSP00000345008.4:p.Val436=
ENST00000554121.2:n.433T=
ENST00000556154.5:c.1322T=	ENSP00000451982.1:p.Val441=
ENST00000556961.1:n.1442T=
NM_006329.3:c.1307T= , LRG_364t1:c.1307T=	NP_006320.2:p.Val436=
XM_005267267.3:c.1358T=	XP_005267324.1:p.Val453=
XM_011536356.1:c.*91T=	XP_011534658.1:n.*91T=
XM_011536357.1:c.*91T=	XP_011534659.1:n.*91T=
XM_011536358.1:c.*91T=	XP_011534660.1:n.*91T=
XM_011536357.2:c.*91T=	XP_011534659.1:n.*91T=
XM_011536358.2:c.*91T=	XP_011534660.1:n.*91T=
XM_017020929.2:c.1139T=	XP_016876418.1:p.Val380=
NM_001384158.1:c.1430T=	NP_001371087.1:p.Val477=
NM_001384159.1:c.1358T=	NP_001371088.1:p.Val453=
NM_001384160.1:c.*91T=	NP_001371089.1:n.*91T=
NM_001384161.1:c.*91T=	NP_001371090.1:n.*91T=
NM_001384162.1:c.1139T=	NP_001371091.1:p.Val380=
NM_006329.4:c.1307T= MANE Select	NP_006320.2:p.Val436=