Canonical Allele Identifier: CA392322455

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415534A>T , CM000677.2:g.48415534A>T	GRCh38
NC_000015.9:g.48707731A>T , CM000677.1:g.48707731A>T	GRCh37
NC_000015.8:g.46495023A>T	NCBI36
NG_008805.2:g.235255T>A , LRG_778:g.235255T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8051+2T>A MANE Select	NP_000129.3:n.8051+2T>A
ENST00000316623.10:c.8051+2T>A MANE Select	ENSP00000325527.5:n.8051+2T>A
NM_000138.4:c.8051+2T>A , LRG_778t1:c.8051+2T>A	NP_000129.3:n.8051+2T>A
ENST00000316623.9:c.8051+2T>A	ENSP00000325527.5:n.8051+2T>A
ENST00000559133.5:c.3420+2T>A
ENST00000559133.6:c.*859+2T>A	ENSP00000453958.2:n.*859+2T>A
ENST00000561429.1:n.306+2T>A
ENST00000674301.1:c.3217+2T>A	ENSP00000501333.1:n.3217+2T>A
ENST00000674301.2:c.*1564+2T>A	ENSP00000501333.2:n.*1564+2T>A
ENST00000682158.1:n.1432+2T>A
ENST00000682170.1:n.2232+2T>A
ENST00000682767.1:n.1348+2T>A