Canonical Allele Identifier: CA392323066

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415651A>T , CM000677.2:g.48415651A>T	GRCh38
NC_000015.9:g.48707848A>T , CM000677.1:g.48707848A>T	GRCh37
NC_000015.8:g.46495140A>T	NCBI36
NG_008805.2:g.235138T>A , LRG_778:g.235138T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7936T>A MANE Select	NP_000129.3:p.Cys2646Ser
ENST00000316623.10:c.7936T>A MANE Select	ENSP00000325527.5:p.Cys2646Ser
NM_000138.4:c.7936T>A , LRG_778t1:c.7936T>A	NP_000129.3:p.Cys2646Ser
ENST00000316623.9:c.7936T>A	ENSP00000325527.5:p.Cys2646Ser
ENST00000559133.5:c.3305T>A
ENST00000559133.6:c.*744T>A	ENSP00000453958.2:n.*744T>A
ENST00000561429.1:n.191T>A
ENST00000674301.1:c.3102T>A	ENSP00000501333.1:n.3102T>A
ENST00000674301.2:c.*1449T>A	ENSP00000501333.2:n.*1449T>A
ENST00000682158.1:n.1317T>A
ENST00000682170.1:n.2117T>A
ENST00000682767.1:n.1233T>A