Canonical Allele Identifier: CA392318703

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703285T>A (hg19) ; chr15:g.48411088T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411088T>A , CM000677.2:g.48411088T>A	GRCh38
NC_000015.9:g.48703285T>A , CM000677.1:g.48703285T>A	GRCh37
NC_000015.8:g.46490577T>A	NCBI36
NG_008805.2:g.239701A>T , LRG_778:g.239701A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1326A>T	ENSP00000453958.2:n.*1326A>T
ENST00000682158.1:n.1899A>T
ENST00000682170.1:n.2699A>T
ENST00000682767.1:n.1815A>T
ENST00000316623.10:c.8518A>T MANE Select	ENSP00000325527.5:p.Lys2840Ter
ENST00000316623.9:c.8518A>T	ENSP00000325527.5:p.Lys2840Ter
ENST00000559133.5:c.3887A>T
NM_000138.4:c.8518A>T , LRG_778t1:c.8518A>T	NP_000129.3:p.Lys2840Ter
NM_000138.5:c.8518A>T MANE Select	NP_000129.3:p.Lys2840Ter