Canonical Allele Identifier: CA2581214120
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48409428C>G , CM000677.2:g.48409428C>G GRCh38
NC_000015.9:g.48701625C>G , CM000677.1:g.48701625C>G GRCh37
NC_000015.8:g.46488917C>G NCBI36
NG_008805.2:g.241361G>C , LRG_778:g.241361G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682170.1:n.4359G>C
ENST00000682767.1:n.3475G>C
ENST00000316623.10:c.*1562G>C MANE Select ENSP00000325527.5:n.*1562G>C
ENST00000316623.9:c.*1562G>C ENSP00000325527.5:n.*1562G>C
NM_000138.4:c.*1562G>C , LRG_778t1:c.*1562G>C NP_000129.3:n.*1562G>C
NM_000138.5:c.*1562G>C MANE Select NP_000129.3:n.*1562G>C
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