Canonical Allele Identifier: CA2155180347

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91936950C= , CM000676.2:g.91936950C=	GRCh38
NC_000014.8:g.92403294C= , CM000676.1:g.92403294C=	GRCh37
NC_000014.7:g.91473047C=	NCBI36
NG_008254.1:g.15753G= , LRG_364:g.15753G=

Transcript Alleles

HGVS	Amino-acid Change
NM_006329.4:c.376G= MANE Select	NP_006320.2:p.Val126=
ENST00000342058.9:c.376G= MANE Select	ENSP00000345008.4:p.Val126=
NM_001384158.1:c.499G=	NP_001371087.1:p.Val167=
NM_001384159.1:c.427G=	NP_001371088.1:p.Val143=
NM_001384160.1:c.376G=	NP_001371089.1:p.Val126=
NM_001384161.1:c.208G=	NP_001371090.1:p.Val70=
NM_001384162.1:c.208G=	NP_001371091.1:p.Val70=
NM_006329.3:c.376G= , LRG_364t1:c.376G=	NP_006320.2:p.Val126=
ENST00000267620.14:c.499G=	ENSP00000267620.10:p.Val167=
ENST00000342058.8:c.376G=	ENSP00000345008.4:p.Val126=
ENST00000556154.5:c.391G=	ENSP00000451982.1:p.Val131=
ENST00000557088.5:c.*342G=	ENSP00000451002.1:n.*342G=
ENST00000557088.6:c.*342G=	ENSP00000451002.1:n.*342G=
ENST00000557570.2:c.208G=	ENSP00000450787.2:p.Val70=
ENST00000706676.1:c.550G=	ENSP00000516492.1:p.Val184=
ENST00000706677.1:c.376G=	ENSP00000516493.1:p.Val126=
ENST00000706679.1:c.208G=	ENSP00000516494.1:p.Val70=
ENST00000706680.1:c.*342G=	ENSP00000516495.1:n.*342G=
ENST00000706681.1:c.*118+182G=	ENSP00000516496.1:n.*118+182G=
XM_005267267.3:c.427G=	XP_005267324.1:p.Val143=
XM_011536356.1:c.427G=	XP_011534658.1:p.Val143=
XM_011536357.1:c.376G=	XP_011534659.1:p.Val126=
XM_011536357.2:c.376G=	XP_011534659.1:p.Val126=
XM_011536358.1:c.208G=	XP_011534660.1:p.Val70=
XM_011536358.2:c.208G=	XP_011534660.1:p.Val70=
XM_017020929.2:c.208G=	XP_016876418.1:p.Val70=