Canonical Allele Identifier: CA392320319
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48766544A>T (hg19) chr15:g.48474347A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474347A>T , CM000677.2:g.48474347A>T GRCh38
NC_000015.9:g.48766544A>T , CM000677.1:g.48766544A>T GRCh37
NC_000015.8:g.46553836A>T NCBI36
NG_008805.2:g.176442T>A , LRG_778:g.176442T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4118T>A ENSP00000453958.2:p.Met1373Lys
ENST00000674301.2:c.4118T>A ENSP00000501333.2:p.Met1373Lys
ENST00000684448.1:n.2792T>A
ENST00000316623.10:c.4118T>A MANE Select ENSP00000325527.5:p.Met1373Lys
ENST00000316623.9:c.4118T>A ENSP00000325527.5:p.Met1373Lys
ENST00000537463.6:c.790T>A ENSP00000440294.2:p.Cys264Ser
NM_000138.4:c.4118T>A , LRG_778t1:c.4118T>A NP_000129.3:p.Met1373Lys
NM_000138.5:c.4118T>A MANE Select NP_000129.3:p.Met1373Lys
Search 100 bp 5'
Search 100 bp 3'