Canonical Allele Identifier: CA2575716544
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411470A>G , CM000677.2:g.48411470A>G GRCh38
NC_000015.9:g.48703667A>G , CM000677.1:g.48703667A>G GRCh37
NC_000015.8:g.46490959A>G NCBI36
NG_008805.2:g.239319T>C , LRG_778:g.239319T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1035-91T>C ENSP00000453958.2:n.*1035-91T>C
ENST00000674301.2:c.*1740-91T>C ENSP00000501333.2:n.*1740-91T>C
ENST00000682158.1:n.1608-91T>C
ENST00000682170.1:n.2408-91T>C
ENST00000682767.1:n.1524-91T>C
ENST00000316623.10:c.8227-91T>C MANE Select ENSP00000325527.5:n.8227-91T>C
ENST00000674301.1:c.3393-91T>C ENSP00000501333.1:n.3393-91T>C
ENST00000316623.9:c.8227-91T>C ENSP00000325527.5:n.8227-91T>C
ENST00000559133.5:c.3596-91T>C
ENST00000561429.1:n.482-91T>C
NM_000138.4:c.8227-91T>C , LRG_778t1:c.8227-91T>C NP_000129.3:n.8227-91T>C
NM_000138.5:c.8227-91T>C MANE Select NP_000129.3:n.8227-91T>C
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