Canonical Allele Identifier: CA392340004
Gene: FBN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.48737612C>T (hg19) chr15:g.48445415C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445415C>T , CM000677.2:g.48445415C>T GRCh38
NC_000015.9:g.48737612C>T , CM000677.1:g.48737612C>T GRCh37
NC_000015.8:g.46524904C>T NCBI36
NG_008805.2:g.205374G>A , LRG_778:g.205374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5878G>A ENSP00000453958.2:p.Glu1960Lys
ENST00000674301.2:c.5878G>A ENSP00000501333.2:p.Glu1960Lys
ENST00000684448.1:n.4552G>A
ENST00000316623.10:c.5878G>A MANE Select ENSP00000325527.5:p.Glu1960Lys
ENST00000674301.1:c.877G>A ENSP00000501333.1:p.Glu293Lys
ENST00000316623.9:c.5878G>A ENSP00000325527.5:p.Glu1960Lys
ENST00000537463.6:c.*1641G>A ENSP00000440294.2:n.*1641G>A
ENST00000559133.5:c.1185G>A
NM_000138.4:c.5878G>A , LRG_778t1:c.5878G>A NP_000129.3:p.Glu1960Lys
NM_000138.5:c.5878G>A MANE Select NP_000129.3:p.Glu1960Lys
Search 100 bp 5'
Search 100 bp 3'