Canonical Allele Identifier: CA392349165
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48463144C>T , CM000677.2:g.48463144C>T GRCh38
NC_000015.9:g.48755341C>T , CM000677.1:g.48755341C>T GRCh37
NC_000015.8:g.46542633C>T NCBI36
NG_008805.2:g.187645G>A , LRG_778:g.187645G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5162G>A ENSP00000453958.2:p.Cys1721Tyr
ENST00000674301.2:c.5162G>A ENSP00000501333.2:p.Cys1721Tyr
ENST00000684448.1:n.3836G>A
ENST00000316623.10:c.5162G>A MANE Select ENSP00000325527.5:p.Cys1721Tyr
ENST00000674301.1:c.161G>A ENSP00000501333.1:p.Cys54Tyr
ENST00000316623.9:c.5162G>A ENSP00000325527.5:p.Cys1721Tyr
ENST00000537463.6:c.*925G>A ENSP00000440294.2:n.*925G>A
ENST00000559133.5:c.469G>A
NM_000138.4:c.5162G>A , LRG_778t1:c.5162G>A NP_000129.3:p.Cys1721Tyr
NM_000138.5:c.5162G>A MANE Select NP_000129.3:p.Cys1721Tyr
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