Canonical Allele Identifier: CA2175463799

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421682G= , CM000677.2:g.48421682G=	GRCh38
NC_000015.9:g.48713879G= , CM000677.1:g.48713879G=	GRCh37
NC_000015.8:g.46501171G=	NCBI36
NG_008805.2:g.229107C= , LRG_778:g.229107C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*383C=	ENSP00000453958.2:n.*383C=
ENST00000674301.2:c.*1088C=	ENSP00000501333.2:n.*1088C=
ENST00000682170.1:n.1756C=
ENST00000682767.1:n.872C=
ENST00000316623.10:c.7575C= MANE Select	ENSP00000325527.5:p.Asn2525=
ENST00000674301.1:c.2741C=	ENSP00000501333.1:n.2741C=
ENST00000316623.9:c.7575C=	ENSP00000325527.5:p.Asn2525=
ENST00000559133.5:c.2944C=
NM_000138.4:c.7575C= , LRG_778t1:c.7575C=	NP_000129.3:p.Asn2525=
NM_000138.5:c.7575C= MANE Select	NP_000129.3:p.Asn2525=