Canonical Allele Identifier: CA016465

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42402
• ClinVar RCV Id: RCV000631937 ; RCV000995545 ; RCV002313728
• dbSNP Id: rs113080385
• MyVariant Identifiers: chr15:g.48729208T>C (hg19) ; chr15:g.48437011T>C (hg38)
• ERepo: CA016465/MONDO:0007947/022
• PubMed: PMID:8653794 ; PMID:24793577

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437011T>C , CM000677.2:g.48437011T>C	GRCh38
NC_000015.9:g.48729208T>C , CM000677.1:g.48729208T>C	GRCh37
NC_000015.8:g.46516500T>C	NCBI36
NG_008805.2:g.213778A>G , LRG_778:g.213778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6446A>G	ENSP00000453958.2:p.Tyr2149Cys
ENST00000674301.2:c.6446A>G	ENSP00000501333.2:p.Tyr2149Cys
ENST00000682170.1:n.55A>G
ENST00000316623.10:c.6446A>G MANE Select	ENSP00000325527.5:p.Tyr2149Cys
ENST00000674301.1:c.1445A>G	ENSP00000501333.1:p.Tyr482Cys
ENST00000316623.9:c.6446A>G	ENSP00000325527.5:p.Tyr2149Cys
ENST00000537463.6:c.*2209A>G	ENSP00000440294.2:n.*2209A>G
ENST00000559133.5:c.1753A>G
NM_000138.4:c.6446A>G , LRG_778t1:c.6446A>G	NP_000129.3:p.Tyr2149Cys
NM_000138.5:c.6446A>G MANE Select	NP_000129.3:p.Tyr2149Cys