Canonical Allele Identifier: CA017141

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200110
• ClinVar RCV Id: RCV000181597 ; RCV001379748
• dbSNP Id: rs794728270
• MyVariant Identifiers: chr15:g.48718013C>T (hg19) ; chr15:g.48425816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425816C>T , CM000677.2:g.48425816C>T	GRCh38
NC_000015.9:g.48718013C>T , CM000677.1:g.48718013C>T	GRCh37
NC_000015.8:g.46505305C>T	NCBI36
NG_008805.2:g.224973G>A , LRG_778:g.224973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*61G>A	ENSP00000453958.2:n.*61G>A
ENST00000674301.2:c.*766G>A	ENSP00000501333.2:n.*766G>A
ENST00000682170.1:n.1434G>A
ENST00000682767.1:n.550G>A
ENST00000316623.10:c.7253G>A MANE Select	ENSP00000325527.5:p.Cys2418Tyr
ENST00000674301.1:c.2419G>A	ENSP00000501333.1:n.2419G>A
ENST00000316623.9:c.7253G>A	ENSP00000325527.5:p.Cys2418Tyr
ENST00000559133.5:c.2622G>A
NM_000138.4:c.7253G>A , LRG_778t1:c.7253G>A	NP_000129.3:p.Cys2418Tyr
NM_000138.5:c.7253G>A MANE Select	NP_000129.3:p.Cys2418Tyr