Canonical Allele Identifier: CA392318776

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2775393
• ClinVar RCV Id: RCV003528800
• MyVariant Identifiers: chr15:g.48703300G>T (hg19) ; chr15:g.48411103G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411103G>T , CM000677.2:g.48411103G>T	GRCh38
NC_000015.9:g.48703300G>T , CM000677.1:g.48703300G>T	GRCh37
NC_000015.8:g.46490592G>T	NCBI36
NG_008805.2:g.239686C>A , LRG_778:g.239686C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1311C>A	ENSP00000453958.2:n.*1311C>A
ENST00000674301.2:c.*2016C>A	ENSP00000501333.2:n.*2016C>A
ENST00000682158.1:n.1884C>A
ENST00000682170.1:n.2684C>A
ENST00000682767.1:n.1800C>A
ENST00000316623.10:c.8503C>A MANE Select	ENSP00000325527.5:p.Pro2835Thr
ENST00000674301.1:c.3669C>A	ENSP00000501333.1:n.3669C>A
ENST00000316623.9:c.8503C>A	ENSP00000325527.5:p.Pro2835Thr
ENST00000559133.5:c.3872C>A
NM_000138.4:c.8503C>A , LRG_778t1:c.8503C>A	NP_000129.3:p.Pro2835Thr
NM_000138.5:c.8503C>A MANE Select	NP_000129.3:p.Pro2835Thr