Canonical Allele Identifier: CA2175492383

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445395T= , CM000677.2:g.48445395T=	GRCh38
NC_000015.9:g.48737592T= , CM000677.1:g.48737592T=	GRCh37
NC_000015.8:g.46524884T=	NCBI36
NG_008805.2:g.205394A= , LRG_778:g.205394A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5898A=	ENSP00000453958.2:p.Pro1966=
ENST00000674301.2:c.5898A=	ENSP00000501333.2:p.Pro1966=
ENST00000684448.1:n.4572A=
ENST00000316623.10:c.5898A= MANE Select	ENSP00000325527.5:p.Pro1966=
ENST00000674301.1:c.897A=	ENSP00000501333.1:p.Pro299=
ENST00000316623.9:c.5898A=	ENSP00000325527.5:p.Pro1966=
ENST00000537463.6:c.*1661A=	ENSP00000440294.2:n.*1661A=
ENST00000559133.5:c.1205A=
ENST00000560820.1:n.18A=
NM_000138.4:c.5898A= , LRG_778t1:c.5898A=	NP_000129.3:p.Pro1966=
NM_000138.5:c.5898A= MANE Select	NP_000129.3:p.Pro1966=