Canonical Allele Identifier: CA2175495751

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427472G= , CM000677.2:g.48427472G=	GRCh38
NC_000015.9:g.48719669G= , CM000677.1:g.48719669G=	GRCh37
NC_000015.8:g.46506961G=	NCBI36
NG_008805.2:g.223317C= , LRG_778:g.223317C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*12+95C=	ENSP00000453958.2:n.*12+95C=
ENST00000674301.2:c.*717+95C=	ENSP00000501333.2:n.*717+95C=
ENST00000682170.1:n.1385+95C=
ENST00000682767.1:n.501+95C=
ENST00000316623.10:c.7204+95C= MANE Select	ENSP00000325527.5:n.7204+95C=
ENST00000674301.1:c.2370+95C=	ENSP00000501333.1:n.2370+95C=
ENST00000316623.9:c.7204+95C=	ENSP00000325527.5:n.7204+95C=
ENST00000559133.5:c.2573+95C=
NM_000138.4:c.7204+95C= , LRG_778t1:c.7204+95C=	NP_000129.3:n.7204+95C=
NM_000138.5:c.7204+95C= MANE Select	NP_000129.3:n.7204+95C=