Canonical Allele Identifier: CA392317751

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549215
• ClinVar RCV Id: RCV000663706
• dbSNP Id: rs1555397546
• MyVariant Identifiers: chr15:g.48764799A>T (hg19) ; chr15:g.48472602A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472602A>T , CM000677.2:g.48472602A>T	GRCh38
NC_000015.9:g.48764799A>T , CM000677.1:g.48764799A>T	GRCh37
NC_000015.8:g.46552091A>T	NCBI36
NG_008805.2:g.178187T>A , LRG_778:g.178187T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4285T>A	ENSP00000453958.2:p.Cys1429Ser
ENST00000674301.2:c.4285T>A	ENSP00000501333.2:p.Cys1429Ser
ENST00000683268.1:n.252T>A
ENST00000684448.1:n.2959T>A
ENST00000316623.10:c.4285T>A MANE Select	ENSP00000325527.5:p.Cys1429Ser
ENST00000316623.9:c.4285T>A	ENSP00000325527.5:p.Cys1429Ser
ENST00000537463.6:c.*48T>A	ENSP00000440294.2:n.*48T>A
NM_000138.4:c.4285T>A , LRG_778t1:c.4285T>A	NP_000129.3:p.Cys1429Ser
NM_000138.5:c.4285T>A MANE Select	NP_000129.3:p.Cys1429Ser