Canonical Allele Identifier: CA392339964
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48737594G>T (hg19) chr15:g.48445397G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445397G>T , CM000677.2:g.48445397G>T GRCh38
NC_000015.9:g.48737594G>T , CM000677.1:g.48737594G>T GRCh37
NC_000015.8:g.46524886G>T NCBI36
NG_008805.2:g.205392C>A , LRG_778:g.205392C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5896C>A ENSP00000453958.2:p.Pro1966Thr
ENST00000674301.2:c.5896C>A ENSP00000501333.2:p.Pro1966Thr
ENST00000684448.1:n.4570C>A
ENST00000316623.10:c.5896C>A MANE Select ENSP00000325527.5:p.Pro1966Thr
ENST00000674301.1:c.895C>A ENSP00000501333.1:p.Pro299Thr
ENST00000316623.9:c.5896C>A ENSP00000325527.5:p.Pro1966Thr
ENST00000537463.6:c.*1659C>A ENSP00000440294.2:n.*1659C>A
ENST00000559133.5:c.1203C>A
ENST00000560820.1:n.16C>A
NM_000138.4:c.5896C>A , LRG_778t1:c.5896C>A NP_000129.3:p.Pro1966Thr
NM_000138.5:c.5896C>A MANE Select NP_000129.3:p.Pro1966Thr
Search 100 bp 5'
Search 100 bp 3'