Canonical Allele Identifier: CA392320169

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411364C>A , CM000677.2:g.48411364C>A	GRCh38
NC_000015.9:g.48703561C>A , CM000677.1:g.48703561C>A	GRCh37
NC_000015.8:g.46490853C>A	NCBI36
NG_008805.2:g.239425G>T , LRG_778:g.239425G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8242G>T MANE Select	NP_000129.3:p.Glu2748Ter
ENST00000316623.10:c.8242G>T MANE Select	ENSP00000325527.5:p.Glu2748Ter
NM_000138.4:c.8242G>T , LRG_778t1:c.8242G>T	NP_000129.3:p.Glu2748Ter
ENST00000316623.9:c.8242G>T	ENSP00000325527.5:p.Glu2748Ter
ENST00000559133.5:c.3611G>T
ENST00000559133.6:c.*1050G>T	ENSP00000453958.2:n.*1050G>T
ENST00000561429.1:n.497G>T
ENST00000674301.1:c.3408G>T	ENSP00000501333.1:n.3408G>T
ENST00000674301.2:c.*1755G>T	ENSP00000501333.2:n.*1755G>T
ENST00000682158.1:n.1623G>T
ENST00000682170.1:n.2423G>T
ENST00000682767.1:n.1539G>T