Canonical Allele Identifier: CA392327850

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425435C>A , CM000677.2:g.48425435C>A	GRCh38
NC_000015.9:g.48717632C>A , CM000677.1:g.48717632C>A	GRCh37
NC_000015.8:g.46504924C>A	NCBI36
NG_008805.2:g.225354G>T , LRG_778:g.225354G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7387G>T MANE Select	NP_000129.3:p.Glu2463Ter
ENST00000316623.10:c.7387G>T MANE Select	ENSP00000325527.5:p.Glu2463Ter
NM_000138.4:c.7387G>T , LRG_778t1:c.7387G>T	NP_000129.3:p.Glu2463Ter
ENST00000316623.9:c.7387G>T	ENSP00000325527.5:p.Glu2463Ter
ENST00000559133.5:c.2756G>T
ENST00000559133.6:c.*195G>T	ENSP00000453958.2:n.*195G>T
ENST00000674301.1:c.2553G>T	ENSP00000501333.1:n.2553G>T
ENST00000674301.2:c.*900G>T	ENSP00000501333.2:n.*900G>T
ENST00000682170.1:n.1568G>T
ENST00000682767.1:n.684G>T