Canonical Allele Identifier: CA392320559
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474602A>G , CM000677.2:g.48474602A>G GRCh38
NC_000015.9:g.48766799A>G , CM000677.1:g.48766799A>G GRCh37
NC_000015.8:g.46554091A>G NCBI36
NG_008805.2:g.176187T>C , LRG_778:g.176187T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4013T>C ENSP00000453958.2:p.Val1338Ala
ENST00000674301.2:c.4013T>C ENSP00000501333.2:p.Val1338Ala
ENST00000684448.1:n.2687T>C
ENST00000316623.10:c.4013T>C MANE Select ENSP00000325527.5:p.Val1338Ala
ENST00000316623.9:c.4013T>C ENSP00000325527.5:p.Val1338Ala
ENST00000537463.6:c.685T>C ENSP00000440294.2:p.Tyr229His
NM_000138.4:c.4013T>C , LRG_778t1:c.4013T>C NP_000129.3:p.Val1338Ala
NM_000138.5:c.4013T>C MANE Select NP_000129.3:p.Val1338Ala