Canonical Allele Identifier: CA392330414

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428350G>T , CM000677.2:g.48428350G>T	GRCh38
NC_000015.9:g.48720547G>T , CM000677.1:g.48720547G>T	GRCh37
NC_000015.8:g.46507839G>T	NCBI36
NG_008805.2:g.222439C>A , LRG_778:g.222439C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6993C>A MANE Select	NP_000129.3:p.Cys2331Ter
ENST00000316623.10:c.6993C>A MANE Select	ENSP00000325527.5:p.Cys2331Ter
NM_000138.4:c.6993C>A , LRG_778t1:c.6993C>A	NP_000129.3:p.Cys2331Ter
ENST00000316623.9:c.6993C>A	ENSP00000325527.5:p.Cys2331Ter
ENST00000559133.5:c.2300C>A
ENST00000559133.6:c.6993C>A	ENSP00000453958.2:p.Cys2331Ter
ENST00000560720.1:n.280C>A
ENST00000674301.1:c.2097C>A	ENSP00000501333.1:n.2097C>A
ENST00000674301.2:c.*444C>A	ENSP00000501333.2:n.*444C>A
ENST00000682170.1:n.602C>A
ENST00000682767.1:n.228C>A