Canonical Allele Identifier: CA059971

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411242C>T , CM000677.2:g.48411242C>T	GRCh38
NC_000015.9:g.48703439C>T , CM000677.1:g.48703439C>T	GRCh37
NC_000015.8:g.46490731C>T	NCBI36
NG_008805.2:g.239547G>A , LRG_778:g.239547G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8364G>A MANE Select	NP_000129.3:p.Thr2788=
ENST00000316623.10:c.8364G>A MANE Select	ENSP00000325527.5:p.Thr2788=
NM_000138.4:c.8364G>A , LRG_778t1:c.8364G>A	NP_000129.3:p.Thr2788=
ENST00000316623.9:c.8364G>A	ENSP00000325527.5:p.Thr2788=
ENST00000559133.5:c.3733G>A
ENST00000559133.6:c.*1172G>A	ENSP00000453958.2:n.*1172G>A
ENST00000561429.1:n.619G>A
ENST00000674301.1:c.3530G>A	ENSP00000501333.1:n.3530G>A
ENST00000674301.2:c.*1877G>A	ENSP00000501333.2:n.*1877G>A
ENST00000682158.1:n.1745G>A
ENST00000682170.1:n.2545G>A
ENST00000682767.1:n.1661G>A