Canonical Allele Identifier: CA392347450
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48812918G>T (hg19) chr15:g.48520721G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520721G>T , CM000677.2:g.48520721G>T GRCh38
NC_000015.9:g.48812918G>T , CM000677.1:g.48812918G>T GRCh37
NC_000015.8:g.46600210G>T NCBI36
NG_008805.2:g.130068C>A , LRG_778:g.130068C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.1085C>A ENSP00000453958.2:p.Ala362Asp
ENST00000674301.2:c.1085C>A ENSP00000501333.2:p.Ala362Asp
ENST00000316623.10:c.1085C>A MANE Select ENSP00000325527.5:p.Ala362Asp
ENST00000316623.9:c.1085C>A ENSP00000325527.5:p.Ala362Asp
ENST00000537463.6:c.636+16990C>A ENSP00000440294.2:n.636+16990C>A
NM_000138.4:c.1085C>A , LRG_778t1:c.1085C>A NP_000129.3:p.Ala362Asp
NM_000138.5:c.1085C>A MANE Select NP_000129.3:p.Ala362Asp
Search 100 bp 5'
Search 100 bp 3'