Canonical Allele Identifier: CA392323372

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415722C>A , CM000677.2:g.48415722C>A	GRCh38
NC_000015.9:g.48707919C>A , CM000677.1:g.48707919C>A	GRCh37
NC_000015.8:g.46495211C>A	NCBI36
NG_008805.2:g.235067G>T , LRG_778:g.235067G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7865G>T MANE Select	NP_000129.3:p.Cys2622Phe
ENST00000316623.10:c.7865G>T MANE Select	ENSP00000325527.5:p.Cys2622Phe
NM_000138.4:c.7865G>T , LRG_778t1:c.7865G>T	NP_000129.3:p.Cys2622Phe
ENST00000316623.9:c.7865G>T	ENSP00000325527.5:p.Cys2622Phe
ENST00000559133.5:c.3234G>T
ENST00000559133.6:c.*673G>T	ENSP00000453958.2:n.*673G>T
ENST00000561429.1:n.120G>T
ENST00000674301.1:c.3031G>T	ENSP00000501333.1:n.3031G>T
ENST00000674301.2:c.*1378G>T	ENSP00000501333.2:n.*1378G>T
ENST00000682158.1:n.1246G>T
ENST00000682170.1:n.2046G>T
ENST00000682767.1:n.1162G>T