Canonical Allele Identifier: CA392324548

Gene: FBN1

Linked Data

• ClinVar Variation Id: 517133
• ClinVar RCV Id: RCV000611011 ; RCV003767738
• dbSNP Id: rs1555394142
• MyVariant Identifiers: chr15:g.48712915G>T (hg19) ; chr15:g.48420718G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420718G>T , CM000677.2:g.48420718G>T	GRCh38
NC_000015.9:g.48712915G>T , CM000677.1:g.48712915G>T	GRCh37
NC_000015.8:g.46500207G>T	NCBI36
NG_008805.2:g.230071C>A , LRG_778:g.230071C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*596C>A	ENSP00000453958.2:n.*596C>A
ENST00000674301.2:c.*1301C>A	ENSP00000501333.2:n.*1301C>A
ENST00000682170.1:n.1969C>A
ENST00000682767.1:n.1085C>A
ENST00000316623.10:c.7788C>A MANE Select	ENSP00000325527.5:p.Tyr2596Ter
ENST00000674301.1:c.2954C>A	ENSP00000501333.1:n.2954C>A
ENST00000316623.9:c.7788C>A	ENSP00000325527.5:p.Tyr2596Ter
ENST00000559133.5:c.3157C>A
NM_000138.4:c.7788C>A , LRG_778t1:c.7788C>A	NP_000129.3:p.Tyr2596Ter
NM_000138.5:c.7788C>A MANE Select	NP_000129.3:p.Tyr2596Ter