Canonical Allele Identifier: CA490118972

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703451A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411254A>T , CM000677.2:g.48411254A>T	GRCh38
NC_000015.9:g.48703451A>T , CM000677.1:g.48703451A>T	GRCh37
NC_000015.8:g.46490743A>T	NCBI36
NG_008805.2:g.239535T>A , LRG_778:g.239535T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1160T>A	ENSP00000453958.2:n.*1160T>A
ENST00000674301.2:c.*1865T>A	ENSP00000501333.2:n.*1865T>A
ENST00000682158.1:n.1733T>A
ENST00000682170.1:n.2533T>A
ENST00000682767.1:n.1649T>A
ENST00000316623.10:c.8352T>A MANE Select	ENSP00000325527.5:p.Leu2784=
ENST00000674301.1:c.3518T>A	ENSP00000501333.1:n.3518T>A
ENST00000316623.9:c.8352T>A	ENSP00000325527.5:p.Leu2784=
ENST00000559133.5:c.3721T>A
ENST00000561429.1:n.607T>A
NM_000138.4:c.8352T>A , LRG_778t1:c.8352T>A	NP_000129.3:p.Leu2784=
NM_000138.5:c.8352T>A MANE Select	NP_000129.3:p.Leu2784=