Canonical Allele Identifier: CA16614408
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406286
ClinVar RCV Id: RCV001385980
dbSNP Id: rs1060501034
MyVariant Identifiers: chr15:g.48729183A>T (hg19) chr15:g.48436986A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48436986A>T , CM000677.2:g.48436986A>T GRCh38
NC_000015.9:g.48729183A>T , CM000677.1:g.48729183A>T GRCh37
NC_000015.8:g.46516475A>T NCBI36
NG_008805.2:g.213803T>A , LRG_778:g.213803T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6471T>A ENSP00000453958.2:p.Tyr2157Ter
ENST00000674301.2:c.6471T>A ENSP00000501333.2:p.Tyr2157Ter
ENST00000682170.1:n.80T>A
ENST00000316623.10:c.6471T>A MANE Select ENSP00000325527.5:p.Tyr2157Ter
ENST00000674301.1:c.1470T>A ENSP00000501333.1:p.Tyr490Ter
ENST00000316623.9:c.6471T>A ENSP00000325527.5:p.Tyr2157Ter
ENST00000537463.6:c.*2234T>A ENSP00000440294.2:n.*2234T>A
ENST00000559133.5:c.1778T>A
NM_000138.4:c.6471T>A , LRG_778t1:c.6471T>A NP_000129.3:p.Tyr2157Ter
NM_000138.5:c.6471T>A MANE Select NP_000129.3:p.Tyr2157Ter
Search 100 bp 5'
Search 100 bp 3'