Canonical Allele Identifier: CA490016714

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717594A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425397A>T , CM000677.2:g.48425397A>T	GRCh38
NC_000015.9:g.48717594A>T , CM000677.1:g.48717594A>T	GRCh37
NC_000015.8:g.46504886A>T	NCBI36
NG_008805.2:g.225392T>A , LRG_778:g.225392T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*233T>A	ENSP00000453958.2:n.*233T>A
ENST00000674301.2:c.*938T>A	ENSP00000501333.2:n.*938T>A
ENST00000682170.1:n.1606T>A
ENST00000682767.1:n.722T>A
ENST00000316623.10:c.7425T>A MANE Select	ENSP00000325527.5:p.Ile2475=
ENST00000674301.1:c.2591T>A	ENSP00000501333.1:n.2591T>A
ENST00000316623.9:c.7425T>A	ENSP00000325527.5:p.Ile2475=
ENST00000559133.5:c.2794T>A
NM_000138.4:c.7425T>A , LRG_778t1:c.7425T>A	NP_000129.3:p.Ile2475=
NM_000138.5:c.7425T>A MANE Select	NP_000129.3:p.Ile2475=