Canonical Allele Identifier: CA2155139335

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877511A= , CM000676.2:g.91877511A=	GRCh38
NC_000014.8:g.92343855A= , CM000676.1:g.92343855A=	GRCh37
NC_000014.7:g.91413608A=	NCBI36
NG_008254.1:g.75192T= , LRG_364:g.75192T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1127T=	ENSP00000451002.1:n.*1127T=
ENST00000557570.2:c.993T=	ENSP00000450787.2:p.Asn331=
ENST00000706675.1:n.976T=
ENST00000706676.1:c.1335T=	ENSP00000516492.1:p.Asn445=
ENST00000706677.1:c.1161T=	ENSP00000516493.1:p.Asn387=
ENST00000706678.1:n.1081T=
ENST00000706679.1:c.993T=	ENSP00000516494.1:p.Asn331=
ENST00000706680.1:c.*1004T=	ENSP00000516495.1:n.*1004T=
ENST00000706681.1:c.*900T=	ENSP00000516496.1:n.*900T=
ENST00000342058.9:c.1161T= MANE Select	ENSP00000345008.4:p.Asn387=
ENST00000267620.14:c.1284T=	ENSP00000267620.10:p.Asn428=
ENST00000342058.8:c.1161T=	ENSP00000345008.4:p.Asn387=
ENST00000554121.2:n.287T=
ENST00000556154.5:c.1176T=	ENSP00000451982.1:p.Asn392=
NM_006329.3:c.1161T= , LRG_364t1:c.1161T=	NP_006320.2:p.Asn387=
XM_005267267.3:c.1212T=	XP_005267324.1:p.Asn404=
XM_011536356.1:c.1212T=	XP_011534658.1:p.Asn404=
XM_011536357.1:c.1161T=	XP_011534659.1:p.Asn387=
XM_011536358.1:c.993T=	XP_011534660.1:p.Asn331=
XM_011536357.2:c.1161T=	XP_011534659.1:p.Asn387=
XM_011536358.2:c.993T=	XP_011534660.1:p.Asn331=
XM_017020929.2:c.993T=	XP_016876418.1:p.Asn331=
NM_001384158.1:c.1284T=	NP_001371087.1:p.Asn428=
NM_001384159.1:c.1212T=	NP_001371088.1:p.Asn404=
NM_001384160.1:c.1161T=	NP_001371089.1:p.Asn387=
NM_001384161.1:c.993T=	NP_001371090.1:p.Asn331=
NM_001384162.1:c.993T=	NP_001371091.1:p.Asn331=
NM_006329.4:c.1161T= MANE Select	NP_006320.2:p.Asn387=