Canonical Allele Identifier: CA059136

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420774G>T , CM000677.2:g.48420774G>T	GRCh38
NC_000015.9:g.48712971G>T , CM000677.1:g.48712971G>T	GRCh37
NC_000015.8:g.46500263G>T	NCBI36
NG_008805.2:g.230015C>A , LRG_778:g.230015C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7732C>A MANE Select	NP_000129.3:p.Gln2578Lys
ENST00000316623.10:c.7732C>A MANE Select	ENSP00000325527.5:p.Gln2578Lys
NM_000138.4:c.7732C>A , LRG_778t1:c.7732C>A	NP_000129.3:p.Gln2578Lys
ENST00000316623.9:c.7732C>A	ENSP00000325527.5:p.Gln2578Lys
ENST00000559133.5:c.3101C>A
ENST00000559133.6:c.*540C>A	ENSP00000453958.2:n.*540C>A
ENST00000674301.1:c.2898C>A	ENSP00000501333.1:n.2898C>A
ENST00000674301.2:c.*1245C>A	ENSP00000501333.2:n.*1245C>A
ENST00000682170.1:n.1913C>A
ENST00000682767.1:n.1029C>A