Canonical Allele Identifier: CA016539

Gene: FBN1

Linked Data

• ClinVar Variation Id: 163467
• ClinVar RCV Id: RCV000150698 ; RCV002514897
• dbSNP Id: rs363821
• MyVariant Identifiers: chr15:g.48726898C>T (hg19) ; chr15:g.48434701C>T (hg38)
• PubMed: PMID:10486319 ; PMID:11875032 ; PMID:17253931

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434701C>T , CM000677.2:g.48434701C>T	GRCh38
NC_000015.9:g.48726898C>T , CM000677.1:g.48726898C>T	GRCh37
NC_000015.8:g.46514190C>T	NCBI36
NG_008805.2:g.216088G>A , LRG_778:g.216088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6509G>A	ENSP00000453958.2:p.Cys2170Tyr
ENST00000674301.2:c.6509G>A	ENSP00000501333.2:p.Cys2170Tyr
ENST00000682170.1:n.118G>A
ENST00000316623.10:c.6509G>A MANE Select	ENSP00000325527.5:p.Cys2170Tyr
ENST00000674301.1:c.1508G>A	ENSP00000501333.1:p.Cys503Tyr
ENST00000316623.9:c.6509G>A	ENSP00000325527.5:p.Cys2170Tyr
ENST00000537463.6:c.*2272G>A	ENSP00000440294.2:n.*2272G>A
ENST00000559133.5:c.1816G>A
NM_000138.4:c.6509G>A , LRG_778t1:c.6509G>A	NP_000129.3:p.Cys2170Tyr
NM_000138.5:c.6509G>A MANE Select	NP_000129.3:p.Cys2170Tyr