Canonical Allele Identifier: CA392330630

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549378
• ClinVar RCV Id: RCV000663914
• dbSNP Id: rs1555394629
• MyVariant Identifiers: chr15:g.48720593C>T (hg19) ; chr15:g.48428396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428396C>T , CM000677.2:g.48428396C>T	GRCh38
NC_000015.9:g.48720593C>T , CM000677.1:g.48720593C>T	GRCh37
NC_000015.8:g.46507885C>T	NCBI36
NG_008805.2:g.222393G>A , LRG_778:g.222393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6947G>A	ENSP00000453958.2:p.Cys2316Tyr
ENST00000674301.2:c.*398G>A	ENSP00000501333.2:n.*398G>A
ENST00000682170.1:n.556G>A
ENST00000682767.1:n.182G>A
ENST00000316623.10:c.6947G>A MANE Select	ENSP00000325527.5:p.Cys2316Tyr
ENST00000674301.1:c.2051G>A	ENSP00000501333.1:n.2051G>A
ENST00000316623.9:c.6947G>A	ENSP00000325527.5:p.Cys2316Tyr
ENST00000559133.5:c.2254G>A
ENST00000560720.1:n.234G>A
NM_000138.4:c.6947G>A , LRG_778t1:c.6947G>A	NP_000129.3:p.Cys2316Tyr
NM_000138.5:c.6947G>A MANE Select	NP_000129.3:p.Cys2316Tyr