Canonical Allele Identifier: CA658824914

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549404
• ClinVar RCV Id: RCV000663948 ; RCV000801947
• dbSNP Id: rs1555394407
• MyVariant Identifiers: chr15:g.48717648dup (hg19) ; chr15:g.48425451dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425454dup , CM000677.2:g.48425454dup	GRCh38
NC_000015.9:g.48717651dup , CM000677.1:g.48717651dup	GRCh37
NC_000015.8:g.46504943dup	NCBI36
NG_008805.2:g.225338dup , LRG_778:g.225338dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*179dup	ENSP00000453958.2:n.*179dup
ENST00000674301.2:c.*884dup	ENSP00000501333.2:n.*884dup
ENST00000682170.1:n.1552dup
ENST00000682767.1:n.668dup
ENST00000316623.10:c.7371dup MANE Select	ENSP00000325527.5:p.Ile2458TyrfsTer30
ENST00000674301.1:c.2537dup	ENSP00000501333.1:n.2537dup
ENST00000316623.9:c.7371dup	ENSP00000325527.5:p.Ile2458TyrfsTer30
ENST00000559133.5:c.2740dup
NM_000138.4:c.7371dup , LRG_778t1:c.7371dup	NP_000129.3:p.Ile2458TyrfsTer30
NM_000138.5:c.7371dup MANE Select	NP_000129.3:p.Ile2458TyrfsTer30