Canonical Allele Identifier: CA490118846
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48703277A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411080A>G , CM000677.2:g.48411080A>G GRCh38
NC_000015.9:g.48703277A>G , CM000677.1:g.48703277A>G GRCh37
NC_000015.8:g.46490569A>G NCBI36
NG_008805.2:g.239709T>C , LRG_778:g.239709T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1334T>C ENSP00000453958.2:n.*1334T>C
ENST00000682158.1:n.1907T>C
ENST00000682170.1:n.2707T>C
ENST00000682767.1:n.1823T>C
ENST00000316623.10:c.8526T>C MANE Select ENSP00000325527.5:p.Leu2842=
ENST00000316623.9:c.8526T>C ENSP00000325527.5:p.Leu2842=
ENST00000559133.5:c.3895T>C
NM_000138.4:c.8526T>C , LRG_778t1:c.8526T>C NP_000129.3:p.Leu2842=
NM_000138.5:c.8526T>C MANE Select NP_000129.3:p.Leu2842=