Canonical Allele Identifier: CA392349513

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463904C>A , CM000677.2:g.48463904C>A	GRCh38
NC_000015.9:g.48756101C>A , CM000677.1:g.48756101C>A	GRCh37
NC_000015.8:g.46543393C>A	NCBI36
NG_008805.2:g.186885G>T , LRG_778:g.186885G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5060G>T MANE Select	NP_000129.3:p.Cys1687Phe
ENST00000316623.10:c.5060G>T MANE Select	ENSP00000325527.5:p.Cys1687Phe
NM_000138.4:c.5060G>T , LRG_778t1:c.5060G>T	NP_000129.3:p.Cys1687Phe
ENST00000316623.9:c.5060G>T	ENSP00000325527.5:p.Cys1687Phe
ENST00000537463.6:c.*823G>T	ENSP00000440294.2:n.*823G>T
ENST00000559133.5:c.367G>T
ENST00000559133.6:c.5060G>T	ENSP00000453958.2:p.Cys1687Phe
ENST00000674301.1:c.59G>T	ENSP00000501333.1:p.Cys20Phe
ENST00000674301.2:c.5060G>T	ENSP00000501333.2:p.Cys1687Phe
ENST00000684448.1:n.3734G>T