Canonical Allele Identifier: CA2175529853

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48510038T= , CM000677.2:g.48510038T=	GRCh38
NC_000015.9:g.48802235T= , CM000677.1:g.48802235T=	GRCh37
NC_000015.8:g.46589527T=	NCBI36
NG_008805.2:g.140751A= , LRG_778:g.140751A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.1714+6A=	ENSP00000453958.2:n.1714+6A=
ENST00000674301.2:c.1714+6A=	ENSP00000501333.2:n.1714+6A=
ENST00000684448.1:n.388+6A=
ENST00000316623.10:c.1714+6A= MANE Select	ENSP00000325527.5:n.1714+6A=
ENST00000316623.9:c.1714+6A=	ENSP00000325527.5:n.1714+6A=
ENST00000537463.6:c.636+27673A=	ENSP00000440294.2:n.636+27673A=
NM_000138.4:c.1714+6A= , LRG_778t1:c.1714+6A=	NP_000129.3:n.1714+6A=
NM_000138.5:c.1714+6A= MANE Select	NP_000129.3:n.1714+6A=