Canonical Allele Identifier: CA392324821

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420792C>A , CM000677.2:g.48420792C>A	GRCh38
NC_000015.9:g.48712989C>A , CM000677.1:g.48712989C>A	GRCh37
NC_000015.8:g.46500281C>A	NCBI36
NG_008805.2:g.229997G>T , LRG_778:g.229997G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7714G>T MANE Select	NP_000129.3:p.Glu2572Ter
ENST00000316623.10:c.7714G>T MANE Select	ENSP00000325527.5:p.Glu2572Ter
NM_000138.4:c.7714G>T , LRG_778t1:c.7714G>T	NP_000129.3:p.Glu2572Ter
ENST00000316623.9:c.7714G>T	ENSP00000325527.5:p.Glu2572Ter
ENST00000559133.5:c.3083G>T
ENST00000559133.6:c.*522G>T	ENSP00000453958.2:n.*522G>T
ENST00000674301.1:c.2880G>T	ENSP00000501333.1:n.2880G>T
ENST00000674301.2:c.*1227G>T	ENSP00000501333.2:n.*1227G>T
ENST00000682170.1:n.1895G>T
ENST00000682767.1:n.1011G>T