Canonical Allele Identifier: CA392325254

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713835A>T (hg19) ; chr15:g.48421638A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421638A>T , CM000677.2:g.48421638A>T	GRCh38
NC_000015.9:g.48713835A>T , CM000677.1:g.48713835A>T	GRCh37
NC_000015.8:g.46501127A>T	NCBI36
NG_008805.2:g.229151T>A , LRG_778:g.229151T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*427T>A	ENSP00000453958.2:n.*427T>A
ENST00000674301.2:c.*1132T>A	ENSP00000501333.2:n.*1132T>A
ENST00000682170.1:n.1800T>A
ENST00000682767.1:n.916T>A
ENST00000316623.10:c.7619T>A MANE Select	ENSP00000325527.5:p.Ile2540Asn
ENST00000674301.1:c.2785T>A	ENSP00000501333.1:n.2785T>A
ENST00000316623.9:c.7619T>A	ENSP00000325527.5:p.Ile2540Asn
ENST00000559133.5:c.2988T>A
NM_000138.4:c.7619T>A , LRG_778t1:c.7619T>A	NP_000129.3:p.Ile2540Asn
NM_000138.5:c.7619T>A MANE Select	NP_000129.3:p.Ile2540Asn