Canonical Allele Identifier: CA490118653
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48703196C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48410999C>T , CM000677.2:g.48410999C>T GRCh38
NC_000015.9:g.48703196C>T , CM000677.1:g.48703196C>T GRCh37
NC_000015.8:g.46490488C>T NCBI36
NG_008805.2:g.239790G>A , LRG_778:g.239790G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1415G>A ENSP00000453958.2:n.*1415G>A
ENST00000682158.1:n.1988G>A
ENST00000682170.1:n.2788G>A
ENST00000682767.1:n.1904G>A
ENST00000316623.10:c.8607G>A MANE Select ENSP00000325527.5:p.Leu2869=
ENST00000316623.9:c.8607G>A ENSP00000325527.5:p.Leu2869=
ENST00000559133.5:c.3976G>A
NM_000138.4:c.8607G>A , LRG_778t1:c.8607G>A NP_000129.3:p.Leu2869=
NM_000138.5:c.8607G>A MANE Select NP_000129.3:p.Leu2869=