Canonical Allele Identifier: CA017477

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42438
• ClinVar RCV Id: RCV000035283 ; RCV000181621
• dbSNP Id: rs397515859
• MyVariant Identifiers: chr15:g.48707829C>T (hg19) ; chr15:g.48415632C>T (hg38)
• PubMed: PMID:11826022 ; PMID:17627385

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415632C>T , CM000677.2:g.48415632C>T	GRCh38
NC_000015.9:g.48707829C>T , CM000677.1:g.48707829C>T	GRCh37
NC_000015.8:g.46495121C>T	NCBI36
NG_008805.2:g.235157G>A , LRG_778:g.235157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*763G>A	ENSP00000453958.2:n.*763G>A
ENST00000674301.2:c.*1468G>A	ENSP00000501333.2:n.*1468G>A
ENST00000682158.1:n.1336G>A
ENST00000682170.1:n.2136G>A
ENST00000682767.1:n.1252G>A
ENST00000316623.10:c.7955G>A MANE Select	ENSP00000325527.5:p.Cys2652Tyr
ENST00000674301.1:c.3121G>A	ENSP00000501333.1:n.3121G>A
ENST00000316623.9:c.7955G>A	ENSP00000325527.5:p.Cys2652Tyr
ENST00000559133.5:c.3324G>A
ENST00000561429.1:n.210G>A
NM_000138.4:c.7955G>A , LRG_778t1:c.7955G>A	NP_000129.3:p.Cys2652Tyr
NM_000138.5:c.7955G>A MANE Select	NP_000129.3:p.Cys2652Tyr