Canonical Allele Identifier: CA392332531

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430752C>A , CM000677.2:g.48430752C>A	GRCh38
NC_000015.9:g.48722949C>A , CM000677.1:g.48722949C>A	GRCh37
NC_000015.8:g.46510241C>A	NCBI36
NG_008805.2:g.220037G>T , LRG_778:g.220037G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6790G>T MANE Select	NP_000129.3:p.Glu2264Ter
ENST00000316623.10:c.6790G>T MANE Select	ENSP00000325527.5:p.Glu2264Ter
NM_000138.4:c.6790G>T , LRG_778t1:c.6790G>T	NP_000129.3:p.Glu2264Ter
ENST00000316623.9:c.6790G>T	ENSP00000325527.5:p.Glu2264Ter
ENST00000559133.5:c.2097G>T
ENST00000559133.6:c.6790G>T	ENSP00000453958.2:p.Glu2264Ter
ENST00000560720.1:n.77G>T
ENST00000674301.1:c.1894G>T	ENSP00000501333.1:n.1894G>T
ENST00000674301.2:c.*241G>T	ENSP00000501333.2:n.*241G>T
ENST00000682170.1:n.399G>T