Canonical Allele Identifier: CA16614394

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406349
• ClinVar RCV Id: RCV001382029
• dbSNP Id: rs1060501077
• MyVariant Identifiers: chr15:g.48714253C>T (hg19) ; chr15:g.48422056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422056C>T , CM000677.2:g.48422056C>T	GRCh38
NC_000015.9:g.48714253C>T , CM000677.1:g.48714253C>T	GRCh37
NC_000015.8:g.46501545C>T	NCBI36
NG_008805.2:g.228733G>A , LRG_778:g.228733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*274G>A	ENSP00000453958.2:n.*274G>A
ENST00000674301.2:c.*979G>A	ENSP00000501333.2:n.*979G>A
ENST00000682170.1:n.1647G>A
ENST00000682767.1:n.763G>A
ENST00000316623.10:c.7466G>A MANE Select	ENSP00000325527.5:p.Cys2489Tyr
ENST00000674301.1:c.2632G>A	ENSP00000501333.1:n.2632G>A
ENST00000316623.9:c.7466G>A	ENSP00000325527.5:p.Cys2489Tyr
ENST00000559133.5:c.2835G>A
NM_000138.4:c.7466G>A , LRG_778t1:c.7466G>A	NP_000129.3:p.Cys2489Tyr
NM_000138.5:c.7466G>A MANE Select	NP_000129.3:p.Cys2489Tyr