Canonical Allele Identifier: CA2175486101

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411014C= , CM000677.2:g.48411014C=	GRCh38
NC_000015.9:g.48703211C= , CM000677.1:g.48703211C=	GRCh37
NC_000015.8:g.46490503C=	NCBI36
NG_008805.2:g.239775G= , LRG_778:g.239775G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1400G=	ENSP00000453958.2:n.*1400G=
ENST00000682158.1:n.1973G=
ENST00000682170.1:n.2773G=
ENST00000682767.1:n.1889G=
ENST00000316623.10:c.8592G= MANE Select	ENSP00000325527.5:p.Met2864=
ENST00000316623.9:c.8592G=	ENSP00000325527.5:p.Met2864=
ENST00000559133.5:c.3961G=
NM_000138.4:c.8592G= , LRG_778t1:c.8592G=	NP_000129.3:p.Met2864=
NM_000138.5:c.8592G= MANE Select	NP_000129.3:p.Met2864=