Canonical Allele Identifier: CA490028477
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48812890A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520693A>T , CM000677.2:g.48520693A>T GRCh38
NC_000015.9:g.48812890A>T , CM000677.1:g.48812890A>T GRCh37
NC_000015.8:g.46600182A>T NCBI36
NG_008805.2:g.130096T>A , LRG_778:g.130096T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1113T>A ENSP00000453958.2:p.Thr371=
ENST00000674301.2:c.1113T>A ENSP00000501333.2:p.Thr371=
ENST00000316623.10:c.1113T>A MANE Select ENSP00000325527.5:p.Thr371=
ENST00000316623.9:c.1113T>A ENSP00000325527.5:p.Thr371=
ENST00000537463.6:c.636+17018T>A ENSP00000440294.2:n.636+17018T>A
NM_000138.4:c.1113T>A , LRG_778t1:c.1113T>A NP_000129.3:p.Thr371=
NM_000138.5:c.1113T>A MANE Select NP_000129.3:p.Thr371=
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