Canonical Allele Identifier: CA2581214124

Gene: FBN1

Genomic Alleles

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

Transcript Alleles

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