Canonical Allele Identifier: CA392324062
Community Standard Title: NM_000138.5(FBN1):c.3745T>A (p.Cys1249Ser)
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483911A>T , CM000677.2:g.48483911A>T GRCh38
NC_000015.9:g.48776108A>T , CM000677.1:g.48776108A>T GRCh37
NC_000015.8:g.46563400A>T NCBI36
NG_008805.2:g.166878T>A , LRG_778:g.166878T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000138.5:c.3745T>A MANE Select NP_000129.3:p.Cys1249Ser
ENST00000316623.10:c.3745T>A MANE Select ENSP00000325527.5:p.Cys1249Ser
NM_000138.4:c.3745T>A , LRG_778t1:c.3745T>A NP_000129.3:p.Cys1249Ser
ENST00000316623.9:c.3745T>A ENSP00000325527.5:p.Cys1249Ser
ENST00000537463.6:c.637-9261T>A ENSP00000440294.2:n.637-9261T>A
ENST00000559133.6:c.3745T>A ENSP00000453958.2:p.Cys1249Ser
ENST00000674301.2:c.3745T>A ENSP00000501333.2:p.Cys1249Ser
ENST00000684448.1:n.2419T>A
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