Canonical Allele Identifier: CA2175492504

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425450T= , CM000677.2:g.48425450T=	GRCh38
NC_000015.9:g.48717647T= , CM000677.1:g.48717647T=	GRCh37
NC_000015.8:g.46504939T=	NCBI36
NG_008805.2:g.225339A= , LRG_778:g.225339A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*180A=	ENSP00000453958.2:n.*180A=
ENST00000674301.2:c.*885A=	ENSP00000501333.2:n.*885A=
ENST00000682170.1:n.1553A=
ENST00000682767.1:n.669A=
ENST00000316623.10:c.7372A= MANE Select	ENSP00000325527.5:p.Ile2458=
ENST00000674301.1:c.2538A=	ENSP00000501333.1:n.2538A=
ENST00000316623.9:c.7372A=	ENSP00000325527.5:p.Ile2458=
ENST00000559133.5:c.2741A=
NM_000138.4:c.7372A= , LRG_778t1:c.7372A=	NP_000129.3:p.Ile2458=
NM_000138.5:c.7372A= MANE Select	NP_000129.3:p.Ile2458=