Canonical Allele Identifier: CA269520575

Gene: FBN1

Linked Data

• dbSNP Id: rs537570299
• MyVariant Identifiers: chr15:g.48717587C>T (hg19) ; chr15:g.48425390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425390C>T , CM000677.2:g.48425390C>T	GRCh38
NC_000015.9:g.48717587C>T , CM000677.1:g.48717587C>T	GRCh37
NC_000015.8:g.46504879C>T	NCBI36
NG_008805.2:g.225399G>A , LRG_778:g.225399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*240G>A	ENSP00000453958.2:n.*240G>A
ENST00000674301.2:c.*945G>A	ENSP00000501333.2:n.*945G>A
ENST00000682170.1:n.1613G>A
ENST00000682767.1:n.729G>A
ENST00000316623.10:c.7432G>A MANE Select	ENSP00000325527.5:p.Glu2478Lys
ENST00000674301.1:c.2598G>A	ENSP00000501333.1:n.2598G>A
ENST00000316623.9:c.7432G>A	ENSP00000325527.5:p.Glu2478Lys
ENST00000559133.5:c.2801G>A
NM_000138.4:c.7432G>A , LRG_778t1:c.7432G>A	NP_000129.3:p.Glu2478Lys
NM_000138.5:c.7432G>A MANE Select	NP_000129.3:p.Glu2478Lys