Canonical Allele Identifier: CA392320693

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704772A>T (hg19) ; chr15:g.48412575A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412575A>T , CM000677.2:g.48412575A>T	GRCh38
NC_000015.9:g.48704772A>T , CM000677.1:g.48704772A>T	GRCh37
NC_000015.8:g.46492064A>T	NCBI36
NG_008805.2:g.238214T>A , LRG_778:g.238214T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1028T>A	ENSP00000453958.2:n.*1028T>A
ENST00000674301.2:c.*1733T>A	ENSP00000501333.2:n.*1733T>A
ENST00000682158.1:n.1601T>A
ENST00000682170.1:n.2401T>A
ENST00000682767.1:n.1517T>A
ENST00000316623.10:c.8220T>A MANE Select	ENSP00000325527.5:p.Asn2740Lys
ENST00000674301.1:c.3386T>A	ENSP00000501333.1:n.3386T>A
ENST00000316623.9:c.8220T>A	ENSP00000325527.5:p.Asn2740Lys
ENST00000559133.5:c.3589T>A
ENST00000561429.1:n.475T>A
NM_000138.4:c.8220T>A , LRG_778t1:c.8220T>A	NP_000129.3:p.Asn2740Lys
NM_000138.5:c.8220T>A MANE Select	NP_000129.3:p.Asn2740Lys