Canonical Allele Identifier: CA392329901
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48427681A>G , CM000677.2:g.48427681A>G GRCh38
NC_000015.9:g.48719878A>G , CM000677.1:g.48719878A>G GRCh37
NC_000015.8:g.46507170A>G NCBI36
NG_008805.2:g.223108T>C , LRG_778:g.223108T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.7152T>C ENSP00000453958.2:p.Ala2384=
ENST00000674301.2:c.*603T>C ENSP00000501333.2:n.*603T>C
ENST00000682170.1:n.1271T>C
ENST00000682767.1:n.387T>C
ENST00000316623.10:c.7090T>C MANE Select ENSP00000325527.5:p.Cys2364Arg
ENST00000674301.1:c.2256T>C ENSP00000501333.1:n.2256T>C
ENST00000316623.9:c.7090T>C ENSP00000325527.5:p.Cys2364Arg
ENST00000559133.5:c.2459T>C
NM_000138.4:c.7090T>C , LRG_778t1:c.7090T>C NP_000129.3:p.Cys2364Arg
NM_000138.5:c.7090T>C MANE Select NP_000129.3:p.Cys2364Arg
Search 100 bp 5'
Search 100 bp 3'