Canonical Allele Identifier: CA2175487935

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412582G= , CM000677.2:g.48412582G=	GRCh38
NC_000015.9:g.48704779G= , CM000677.1:g.48704779G=	GRCh37
NC_000015.8:g.46492071G=	NCBI36
NG_008805.2:g.238207C= , LRG_778:g.238207C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1021C=	ENSP00000453958.2:n.*1021C=
ENST00000674301.2:c.*1726C=	ENSP00000501333.2:n.*1726C=
ENST00000682158.1:n.1594C=
ENST00000682170.1:n.2394C=
ENST00000682767.1:n.1510C=
ENST00000316623.10:c.8213C= MANE Select	ENSP00000325527.5:p.Ala2738=
ENST00000674301.1:c.3379C=	ENSP00000501333.1:n.3379C=
ENST00000316623.9:c.8213C=	ENSP00000325527.5:p.Ala2738=
ENST00000559133.5:c.3582C=
ENST00000561429.1:n.468C=
NM_000138.4:c.8213C= , LRG_778t1:c.8213C=	NP_000129.3:p.Ala2738=
NM_000138.5:c.8213C= MANE Select	NP_000129.3:p.Ala2738=