Canonical Allele Identifier: CA392329954

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427687C>A , CM000677.2:g.48427687C>A	GRCh38
NC_000015.9:g.48719884C>A , CM000677.1:g.48719884C>A	GRCh37
NC_000015.8:g.46507176C>A	NCBI36
NG_008805.2:g.223102G>T , LRG_778:g.223102G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7084G>T MANE Select	NP_000129.3:p.Glu2362Ter
ENST00000316623.10:c.7084G>T MANE Select	ENSP00000325527.5:p.Glu2362Ter
NM_000138.4:c.7084G>T , LRG_778t1:c.7084G>T	NP_000129.3:p.Glu2362Ter
ENST00000316623.9:c.7084G>T	ENSP00000325527.5:p.Glu2362Ter
ENST00000559133.5:c.2453G>T
ENST00000559133.6:c.7146G>T	ENSP00000453958.2:p.Arg2382=
ENST00000674301.1:c.2250G>T	ENSP00000501333.1:n.2250G>T
ENST00000674301.2:c.*597G>T	ENSP00000501333.2:n.*597G>T
ENST00000682170.1:n.1265G>T
ENST00000682767.1:n.381G>T