Canonical Allele Identifier: CA392327764

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425413C>A , CM000677.2:g.48425413C>A	GRCh38
NC_000015.9:g.48717610C>A , CM000677.1:g.48717610C>A	GRCh37
NC_000015.8:g.46504902C>A	NCBI36
NG_008805.2:g.225376G>T , LRG_778:g.225376G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7409G>T MANE Select	NP_000129.3:p.Cys2470Phe
ENST00000316623.10:c.7409G>T MANE Select	ENSP00000325527.5:p.Cys2470Phe
NM_000138.4:c.7409G>T , LRG_778t1:c.7409G>T	NP_000129.3:p.Cys2470Phe
ENST00000316623.9:c.7409G>T	ENSP00000325527.5:p.Cys2470Phe
ENST00000559133.5:c.2778G>T
ENST00000559133.6:c.*217G>T	ENSP00000453958.2:n.*217G>T
ENST00000674301.1:c.2575G>T	ENSP00000501333.1:n.2575G>T
ENST00000674301.2:c.*922G>T	ENSP00000501333.2:n.*922G>T
ENST00000682170.1:n.1590G>T
ENST00000682767.1:n.706G>T