Canonical Allele Identifier: CA2175496464

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474644T= , CM000677.2:g.48474644T=	GRCh38
NC_000015.9:g.48766841T= , CM000677.1:g.48766841T=	GRCh37
NC_000015.8:g.46554133T=	NCBI36
NG_008805.2:g.176145A= , LRG_778:g.176145A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3971A=	ENSP00000453958.2:p.Asn1324=
ENST00000674301.2:c.3971A=	ENSP00000501333.2:p.Asn1324=
ENST00000684448.1:n.2645A=
ENST00000316623.10:c.3971A= MANE Select	ENSP00000325527.5:p.Asn1324=
ENST00000316623.9:c.3971A=	ENSP00000325527.5:p.Asn1324=
ENST00000537463.6:c.643A=	ENSP00000440294.2:p.Met215=
NM_000138.4:c.3971A= , LRG_778t1:c.3971A=	NP_000129.3:p.Asn1324=
NM_000138.5:c.3971A= MANE Select	NP_000129.3:p.Asn1324=