Canonical Allele Identifier: CA392352793
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331934
dbSNP Id: rs2141272271

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48467957C>T , CM000677.2:g.48467957C>T GRCh38
NC_000015.9:g.48760154C>T , CM000677.1:g.48760154C>T GRCh37
NC_000015.8:g.46547446C>T NCBI36
NG_008805.2:g.182832G>A , LRG_778:g.182832G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4728G>A ENSP00000453958.2:p.Met1576Ile
ENST00000674301.2:c.4728G>A ENSP00000501333.2:p.Met1576Ile
ENST00000684448.1:n.3402G>A
ENST00000316623.10:c.4728G>A MANE Select ENSP00000325527.5:p.Met1576Ile
ENST00000316623.9:c.4728G>A ENSP00000325527.5:p.Met1576Ile
ENST00000537463.6:c.*491G>A ENSP00000440294.2:n.*491G>A
ENST00000559133.5:c.35G>A
NM_000138.4:c.4728G>A , LRG_778t1:c.4728G>A NP_000129.3:p.Met1576Ile
NM_000138.5:c.4728G>A MANE Select NP_000129.3:p.Met1576Ile