Canonical Allele Identifier: CA392318422

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703206A>G (hg19) ; chr15:g.48411009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411009A>G , CM000677.2:g.48411009A>G	GRCh38
NC_000015.9:g.48703206A>G , CM000677.1:g.48703206A>G	GRCh37
NC_000015.8:g.46490498A>G	NCBI36
NG_008805.2:g.239780T>C , LRG_778:g.239780T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1405T>C	ENSP00000453958.2:n.*1405T>C
ENST00000682158.1:n.1978T>C
ENST00000682170.1:n.2778T>C
ENST00000682767.1:n.1894T>C
ENST00000316623.10:c.8597T>C MANE Select	ENSP00000325527.5:p.Ile2866Thr
ENST00000316623.9:c.8597T>C	ENSP00000325527.5:p.Ile2866Thr
ENST00000559133.5:c.3966T>C
NM_000138.4:c.8597T>C , LRG_778t1:c.8597T>C	NP_000129.3:p.Ile2866Thr
NM_000138.5:c.8597T>C MANE Select	NP_000129.3:p.Ile2866Thr