Canonical Allele Identifier: CA2175463602

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421623G= , CM000677.2:g.48421623G=	GRCh38
NC_000015.9:g.48713820G= , CM000677.1:g.48713820G=	GRCh37
NC_000015.8:g.46501112G=	NCBI36
NG_008805.2:g.229166C= , LRG_778:g.229166C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*442C=	ENSP00000453958.2:n.*442C=
ENST00000674301.2:c.*1147C=	ENSP00000501333.2:n.*1147C=
ENST00000682170.1:n.1815C=
ENST00000682767.1:n.931C=
ENST00000316623.10:c.7634C= MANE Select	ENSP00000325527.5:p.Pro2545=
ENST00000674301.1:c.2800C=	ENSP00000501333.1:n.2800C=
ENST00000316623.9:c.7634C=	ENSP00000325527.5:p.Pro2545=
ENST00000559133.5:c.3003C=
NM_000138.4:c.7634C= , LRG_778t1:c.7634C=	NP_000129.3:p.Pro2545=
NM_000138.5:c.7634C= MANE Select	NP_000129.3:p.Pro2545=