Canonical Allele Identifier: CA269520583

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425410G>A , CM000677.2:g.48425410G>A	GRCh38
NC_000015.9:g.48717607G>A , CM000677.1:g.48717607G>A	GRCh37
NC_000015.8:g.46504899G>A	NCBI36
NG_008805.2:g.225379C>T , LRG_778:g.225379C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7412C>T MANE Select	NP_000129.3:p.Pro2471Leu
ENST00000316623.10:c.7412C>T MANE Select	ENSP00000325527.5:p.Pro2471Leu
NM_000138.4:c.7412C>T , LRG_778t1:c.7412C>T	NP_000129.3:p.Pro2471Leu
ENST00000316623.9:c.7412C>T	ENSP00000325527.5:p.Pro2471Leu
ENST00000559133.5:c.2781C>T
ENST00000559133.6:c.*220C>T	ENSP00000453958.2:n.*220C>T
ENST00000674301.1:c.2578C>T	ENSP00000501333.1:n.2578C>T
ENST00000674301.2:c.*925C>T	ENSP00000501333.2:n.*925C>T
ENST00000682170.1:n.1593C>T
ENST00000682767.1:n.709C>T