Canonical Allele Identifier: CA2175489344

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415571A= , CM000677.2:g.48415571A=	GRCh38
NC_000015.9:g.48707768A= , CM000677.1:g.48707768A=	GRCh37
NC_000015.8:g.46495060A=	NCBI36
NG_008805.2:g.235218T= , LRG_778:g.235218T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8016T= MANE Select	NP_000129.3:p.Cys2672=
ENST00000316623.10:c.8016T= MANE Select	ENSP00000325527.5:p.Cys2672=
NM_000138.4:c.8016T= , LRG_778t1:c.8016T=	NP_000129.3:p.Cys2672=
ENST00000316623.9:c.8016T=	ENSP00000325527.5:p.Cys2672=
ENST00000559133.5:c.3385T=
ENST00000559133.6:c.*824T=	ENSP00000453958.2:n.*824T=
ENST00000561429.1:n.271T=
ENST00000674301.1:c.3182T=	ENSP00000501333.1:n.3182T=
ENST00000674301.2:c.*1529T=	ENSP00000501333.2:n.*1529T=
ENST00000682158.1:n.1397T=
ENST00000682170.1:n.2197T=
ENST00000682767.1:n.1313T=