Canonical Allele Identifier: CA392353833
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549234
dbSNP Id: rs1555397216

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468534T>G , CM000677.2:g.48468534T>G GRCh38
NC_000015.9:g.48760731T>G , CM000677.1:g.48760731T>G GRCh37
NC_000015.8:g.46548023T>G NCBI36
NG_008805.2:g.182255A>C , LRG_778:g.182255A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4460A>C ENSP00000453958.2:p.Asp1487Ala
ENST00000674301.2:c.4460A>C ENSP00000501333.2:p.Asp1487Ala
ENST00000684448.1:n.3134A>C
ENST00000316623.10:c.4460A>C MANE Select ENSP00000325527.5:p.Asp1487Ala
ENST00000316623.9:c.4460A>C ENSP00000325527.5:p.Asp1487Ala
ENST00000537463.6:c.*223A>C ENSP00000440294.2:n.*223A>C
NM_000138.4:c.4460A>C , LRG_778t1:c.4460A>C NP_000129.3:p.Asp1487Ala
NM_000138.5:c.4460A>C MANE Select NP_000129.3:p.Asp1487Ala