Canonical Allele Identifier: CA392330338

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427758T>A , CM000677.2:g.48427758T>A	GRCh38
NC_000015.9:g.48719955T>A , CM000677.1:g.48719955T>A	GRCh37
NC_000015.8:g.46507247T>A	NCBI36
NG_008805.2:g.223031A>T , LRG_778:g.223031A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7013A>T MANE Select	NP_000129.3:p.Tyr2338Phe
ENST00000316623.10:c.7013A>T MANE Select	ENSP00000325527.5:p.Tyr2338Phe
NM_000138.4:c.7013A>T , LRG_778t1:c.7013A>T	NP_000129.3:p.Tyr2338Phe
ENST00000316623.9:c.7013A>T	ENSP00000325527.5:p.Tyr2338Phe
ENST00000559133.5:c.2382A>T
ENST00000559133.6:c.7075A>T	ENSP00000453958.2:p.Thr2359Ser
ENST00000674301.1:c.2179A>T	ENSP00000501333.1:n.2179A>T
ENST00000674301.2:c.*526A>T	ENSP00000501333.2:n.*526A>T
ENST00000682170.1:n.1194A>T
ENST00000682767.1:n.310A>T