Canonical Allele Identifier: CA16614408

Gene: FBN1

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)

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