Canonical Allele Identifier: CA392330636

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48720594A>T (hg19) ; chr15:g.48428397A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428397A>T , CM000677.2:g.48428397A>T	GRCh38
NC_000015.9:g.48720594A>T , CM000677.1:g.48720594A>T	GRCh37
NC_000015.8:g.46507886A>T	NCBI36
NG_008805.2:g.222392T>A , LRG_778:g.222392T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6946T>A	ENSP00000453958.2:p.Cys2316Ser
ENST00000674301.2:c.*397T>A	ENSP00000501333.2:n.*397T>A
ENST00000682170.1:n.555T>A
ENST00000682767.1:n.181T>A
ENST00000316623.10:c.6946T>A MANE Select	ENSP00000325527.5:p.Cys2316Ser
ENST00000674301.1:c.2050T>A	ENSP00000501333.1:n.2050T>A
ENST00000316623.9:c.6946T>A	ENSP00000325527.5:p.Cys2316Ser
ENST00000559133.5:c.2253T>A
ENST00000560720.1:n.233T>A
NM_000138.4:c.6946T>A , LRG_778t1:c.6946T>A	NP_000129.3:p.Cys2316Ser
NM_000138.5:c.6946T>A MANE Select	NP_000129.3:p.Cys2316Ser