Canonical Allele Identifier: CA392329831
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490022T>A , CM000677.2:g.48490022T>A GRCh38
NC_000015.9:g.48782219T>A , CM000677.1:g.48782219T>A GRCh37
NC_000015.8:g.46569511T>A NCBI36
NG_008805.2:g.160767A>T , LRG_778:g.160767A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2911A>T ENSP00000453958.2:p.Ile971Phe
ENST00000674301.2:c.2911A>T ENSP00000501333.2:p.Ile971Phe
ENST00000684448.1:n.1585A>T
ENST00000316623.10:c.2911A>T MANE Select ENSP00000325527.5:p.Ile971Phe
ENST00000316623.9:c.2911A>T ENSP00000325527.5:p.Ile971Phe
ENST00000537463.6:c.637-15372A>T ENSP00000440294.2:n.637-15372A>T
NM_000138.4:c.2911A>T , LRG_778t1:c.2911A>T NP_000129.3:p.Ile971Phe
NM_000138.5:c.2911A>T MANE Select NP_000129.3:p.Ile971Phe