Canonical Allele Identifier: CA10587791

Gene: FBN1

Linked Data

• ClinVar Variation Id: 263398
• ClinVar RCV Id: RCV000794952 ; RCV000780252 ; RCV000480933 ; RCV002310834
• dbSNP Id: rs886038786
• MyVariant Identifiers: chr15:g.48712995C>T (hg19) ; chr15:g.48420798C>T (hg38)
• PubMed: PMID:16222657 ; PMID:18435798 ; PMID:19159394

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420798C>T , CM000677.2:g.48420798C>T	GRCh38
NC_000015.9:g.48712995C>T , CM000677.1:g.48712995C>T	GRCh37
NC_000015.8:g.46500287C>T	NCBI36
NG_008805.2:g.229991G>A , LRG_778:g.229991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*516G>A	ENSP00000453958.2:n.*516G>A
ENST00000674301.2:c.*1221G>A	ENSP00000501333.2:n.*1221G>A
ENST00000682170.1:n.1889G>A
ENST00000682767.1:n.1005G>A
ENST00000316623.10:c.7708G>A MANE Select	ENSP00000325527.5:p.Glu2570Lys
ENST00000674301.1:c.2874G>A	ENSP00000501333.1:n.2874G>A
ENST00000316623.9:c.7708G>A	ENSP00000325527.5:p.Glu2570Lys
ENST00000559133.5:c.3077G>A
NM_000138.4:c.7708G>A , LRG_778t1:c.7708G>A	NP_000129.3:p.Glu2570Lys
NM_000138.5:c.7708G>A MANE Select	NP_000129.3:p.Glu2570Lys