Canonical Allele Identifier: CA490118981

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703460A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411263A>T , CM000677.2:g.48411263A>T	GRCh38
NC_000015.9:g.48703460A>T , CM000677.1:g.48703460A>T	GRCh37
NC_000015.8:g.46490752A>T	NCBI36
NG_008805.2:g.239526T>A , LRG_778:g.239526T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1151T>A	ENSP00000453958.2:n.*1151T>A
ENST00000674301.2:c.*1856T>A	ENSP00000501333.2:n.*1856T>A
ENST00000682158.1:n.1724T>A
ENST00000682170.1:n.2524T>A
ENST00000682767.1:n.1640T>A
ENST00000316623.10:c.8343T>A MANE Select	ENSP00000325527.5:p.Leu2781=
ENST00000674301.1:c.3509T>A	ENSP00000501333.1:n.3509T>A
ENST00000316623.9:c.8343T>A	ENSP00000325527.5:p.Leu2781=
ENST00000559133.5:c.3712T>A
ENST00000561429.1:n.598T>A
NM_000138.4:c.8343T>A , LRG_778t1:c.8343T>A	NP_000129.3:p.Leu2781=
NM_000138.5:c.8343T>A MANE Select	NP_000129.3:p.Leu2781=