Canonical Allele Identifier: CA013900

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16457
• ClinVar RCV Id: RCV000017920 ; RCV000181482 ; RCV000227621 ; RCV000582993 ; RCV000684781 ; RCV002313714
• dbSNP Id: rs137854478
• MyVariant Identifiers: chr15:g.48780430C>T (hg19) ; chr15:g.48488233C>T (hg38)
• PubMed: PMID:1729284 ; PMID:7611299 ; PMID:8880577 ; PMID:8882780 ; PMID:10766875 ; PMID:16596670 ; PMID:17324963 ; PMID:21784848 ; PMID:24199744 ; PMID:26796135 ; PMID:27914124

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488233C>T , CM000677.2:g.48488233C>T	GRCh38
NC_000015.9:g.48780430C>T , CM000677.1:g.48780430C>T	GRCh37
NC_000015.8:g.46567722C>T	NCBI36
NG_008805.2:g.162556G>A , LRG_778:g.162556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3217G>A	ENSP00000453958.2:p.Glu1073Lys
ENST00000674301.2:c.3217G>A	ENSP00000501333.2:p.Glu1073Lys
ENST00000684448.1:n.1891G>A
ENST00000316623.10:c.3217G>A MANE Select	ENSP00000325527.5:p.Glu1073Lys
ENST00000316623.9:c.3217G>A	ENSP00000325527.5:p.Glu1073Lys
ENST00000537463.6:c.637-13583G>A	ENSP00000440294.2:n.637-13583G>A
NM_000138.4:c.3217G>A , LRG_778t1:c.3217G>A	NP_000129.3:p.Glu1073Lys
NM_000138.5:c.3217G>A MANE Select	NP_000129.3:p.Glu1073Lys