Canonical Allele Identifier: CA490021941
Gene: FBN1 HGNC NCBI

Linked Data

COSMIC: COSM433984
MyVariant Identifiers: chr15:g.48787333G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48495136G>T , CM000677.2:g.48495136G>T GRCh38
NC_000015.9:g.48787333G>T , CM000677.1:g.48787333G>T GRCh37
NC_000015.8:g.46574625G>T NCBI36
NG_008805.2:g.155653C>A , LRG_778:g.155653C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2664C>A ENSP00000453958.2:p.Thr888=
ENST00000674301.2:c.2664C>A ENSP00000501333.2:p.Thr888=
ENST00000684448.1:n.1338C>A
ENST00000316623.10:c.2664C>A MANE Select ENSP00000325527.5:p.Thr888=
ENST00000316623.9:c.2664C>A ENSP00000325527.5:p.Thr888=
ENST00000537463.6:c.637-20486C>A ENSP00000440294.2:n.637-20486C>A
NM_000138.4:c.2664C>A , LRG_778t1:c.2664C>A NP_000129.3:p.Thr888=
NM_000138.5:c.2664C>A MANE Select NP_000129.3:p.Thr888=
Search 100 bp 5'
Search 100 bp 3'