Canonical Allele Identifier: CA2175529821

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48509954A= , CM000677.2:g.48509954A=	GRCh38
NC_000015.9:g.48802151A= , CM000677.1:g.48802151A=	GRCh37
NC_000015.8:g.46589443A=	NCBI36
NG_008805.2:g.140835T= , LRG_778:g.140835T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1714+90T=	ENSP00000453958.2:n.1714+90T=
ENST00000674301.2:c.1714+90T=	ENSP00000501333.2:n.1714+90T=
ENST00000684448.1:n.388+90T=
ENST00000316623.10:c.1714+90T= MANE Select	ENSP00000325527.5:n.1714+90T=
ENST00000316623.9:c.1714+90T=	ENSP00000325527.5:n.1714+90T=
ENST00000537463.6:c.636+27757T=	ENSP00000440294.2:n.636+27757T=
NM_000138.4:c.1714+90T= , LRG_778t1:c.1714+90T=	NP_000129.3:n.1714+90T=
NM_000138.5:c.1714+90T= MANE Select	NP_000129.3:n.1714+90T=