Canonical Allele Identifier: CA392321658

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704936A>T (hg19) ; chr15:g.48412739A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412739A>T , CM000677.2:g.48412739A>T	GRCh38
NC_000015.9:g.48704936A>T , CM000677.1:g.48704936A>T	GRCh37
NC_000015.8:g.46492228A>T	NCBI36
NG_008805.2:g.238050T>A , LRG_778:g.238050T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*864T>A	ENSP00000453958.2:n.*864T>A
ENST00000674301.2:c.*1569T>A	ENSP00000501333.2:n.*1569T>A
ENST00000682158.1:n.1437T>A
ENST00000682170.1:n.2237T>A
ENST00000682767.1:n.1353T>A
ENST00000316623.10:c.8056T>A MANE Select	ENSP00000325527.5:p.Cys2686Ser
ENST00000674301.1:c.3222T>A	ENSP00000501333.1:n.3222T>A
ENST00000316623.9:c.8056T>A	ENSP00000325527.5:p.Cys2686Ser
ENST00000559133.5:c.3425T>A
ENST00000561429.1:n.311T>A
NM_000138.4:c.8056T>A , LRG_778t1:c.8056T>A	NP_000129.3:p.Cys2686Ser
NM_000138.5:c.8056T>A MANE Select	NP_000129.3:p.Cys2686Ser