Canonical Allele Identifier: CA2175485970

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410767A= , CM000677.2:g.48410767A=	GRCh38
NC_000015.9:g.48702964A= , CM000677.1:g.48702964A=	GRCh37
NC_000015.8:g.46490256A=	NCBI36
NG_008805.2:g.240022T= , LRG_778:g.240022T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1647T=	ENSP00000453958.2:n.*1647T=
ENST00000682158.1:n.2220T=
ENST00000682170.1:n.3020T=
ENST00000682767.1:n.2136T=
ENST00000316623.10:c.*223T= MANE Select	ENSP00000325527.5:n.*223T=
ENST00000316623.9:c.*223T=	ENSP00000325527.5:n.*223T=
ENST00000559133.5:c.4208T=
NM_000138.4:c.*223T= , LRG_778t1:c.*223T=	NP_000129.3:n.*223T=
NM_000138.5:c.*223T= MANE Select	NP_000129.3:n.*223T=