Canonical Allele Identifier: CA392318889

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411133C>A , CM000677.2:g.48411133C>A	GRCh38
NC_000015.9:g.48703330C>A , CM000677.1:g.48703330C>A	GRCh37
NC_000015.8:g.46490622C>A	NCBI36
NG_008805.2:g.239656G>T , LRG_778:g.239656G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8473G>T MANE Select	NP_000129.3:p.Gly2825Ter
ENST00000316623.10:c.8473G>T MANE Select	ENSP00000325527.5:p.Gly2825Ter
NM_000138.4:c.8473G>T , LRG_778t1:c.8473G>T	NP_000129.3:p.Gly2825Ter
ENST00000316623.9:c.8473G>T	ENSP00000325527.5:p.Gly2825Ter
ENST00000559133.5:c.3842G>T
ENST00000559133.6:c.*1281G>T	ENSP00000453958.2:n.*1281G>T
ENST00000674301.1:c.3639G>T	ENSP00000501333.1:n.3639G>T
ENST00000674301.2:c.*1986G>T	ENSP00000501333.2:n.*1986G>T
ENST00000682158.1:n.1854G>T
ENST00000682170.1:n.2654G>T
ENST00000682767.1:n.1770G>T