Canonical Allele Identifier: CA017713

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411221G>A , CM000677.2:g.48411221G>A	GRCh38
NC_000015.9:g.48703418G>A , CM000677.1:g.48703418G>A	GRCh37
NC_000015.8:g.46490710G>A	NCBI36
NG_008805.2:g.239568C>T , LRG_778:g.239568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1193C>T	ENSP00000453958.2:n.*1193C>T
ENST00000674301.2:c.*1898C>T	ENSP00000501333.2:n.*1898C>T
ENST00000682158.1:n.1766C>T
ENST00000682170.1:n.2566C>T
ENST00000682767.1:n.1682C>T
ENST00000316623.10:c.8385C>T MANE Select	ENSP00000325527.5:p.Ile2795=
ENST00000674301.1:c.3551C>T	ENSP00000501333.1:n.3551C>T
ENST00000316623.9:c.8385C>T	ENSP00000325527.5:p.Ile2795=
ENST00000559133.5:c.3754C>T
ENST00000561429.1:n.640C>T
NM_000138.4:c.8385C>T , LRG_778t1:c.8385C>T	NP_000129.3:p.Ile2795=
NM_000138.5:c.8385C>T MANE Select	NP_000129.3:p.Ile2795=