Canonical Allele Identifier: CA392326283

Gene: FBN1

Linked Data

• dbSNP Id: rs1085307921
• MyVariant Identifiers: chr15:g.48714265T>A (hg19) ; chr15:g.48422068T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422068T>A , CM000677.2:g.48422068T>A	GRCh38
NC_000015.9:g.48714265T>A , CM000677.1:g.48714265T>A	GRCh37
NC_000015.8:g.46501557T>A	NCBI36
NG_008805.2:g.228721A>T , LRG_778:g.228721A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262A>T	ENSP00000453958.2:n.*262A>T
ENST00000674301.2:c.*967A>T	ENSP00000501333.2:n.*967A>T
ENST00000682170.1:n.1635A>T
ENST00000682767.1:n.751A>T
ENST00000316623.10:c.7454A>T MANE Select	ENSP00000325527.5:p.Asp2485Val
ENST00000674301.1:c.2620A>T	ENSP00000501333.1:n.2620A>T
ENST00000316623.9:c.7454A>T	ENSP00000325527.5:p.Asp2485Val
ENST00000559133.5:c.2823A>T
NM_000138.4:c.7454A>T , LRG_778t1:c.7454A>T	NP_000129.3:p.Asp2485Val
NM_000138.5:c.7454A>T MANE Select	NP_000129.3:p.Asp2485Val