Canonical Allele Identifier: CA392324915

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713757T>A (hg19) ; chr15:g.48421560T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421560T>A , CM000677.2:g.48421560T>A	GRCh38
NC_000015.9:g.48713757T>A , CM000677.1:g.48713757T>A	GRCh37
NC_000015.8:g.46501049T>A	NCBI36
NG_008805.2:g.229229A>T , LRG_778:g.229229A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*505A>T	ENSP00000453958.2:n.*505A>T
ENST00000674301.2:c.*1210A>T	ENSP00000501333.2:n.*1210A>T
ENST00000682170.1:n.1878A>T
ENST00000682767.1:n.994A>T
ENST00000316623.10:c.7697A>T MANE Select	ENSP00000325527.5:p.Glu2566Val
ENST00000674301.1:c.2863A>T	ENSP00000501333.1:n.2863A>T
ENST00000316623.9:c.7697A>T	ENSP00000325527.5:p.Glu2566Val
ENST00000559133.5:c.3066A>T
NM_000138.4:c.7697A>T , LRG_778t1:c.7697A>T	NP_000129.3:p.Glu2566Val
NM_000138.5:c.7697A>T MANE Select	NP_000129.3:p.Glu2566Val