Canonical Allele Identifier: CA392319005

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703355G>T (hg19) ; chr15:g.48411158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411158G>T , CM000677.2:g.48411158G>T	GRCh38
NC_000015.9:g.48703355G>T , CM000677.1:g.48703355G>T	GRCh37
NC_000015.8:g.46490647G>T	NCBI36
NG_008805.2:g.239631C>A , LRG_778:g.239631C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1256C>A	ENSP00000453958.2:n.*1256C>A
ENST00000674301.2:c.*1961C>A	ENSP00000501333.2:n.*1961C>A
ENST00000682158.1:n.1829C>A
ENST00000682170.1:n.2629C>A
ENST00000682767.1:n.1745C>A
ENST00000316623.10:c.8448C>A MANE Select	ENSP00000325527.5:p.His2816Gln
ENST00000674301.1:c.3614C>A	ENSP00000501333.1:n.3614C>A
ENST00000316623.9:c.8448C>A	ENSP00000325527.5:p.His2816Gln
ENST00000559133.5:c.3817C>A
NM_000138.4:c.8448C>A , LRG_778t1:c.8448C>A	NP_000129.3:p.His2816Gln
NM_000138.5:c.8448C>A MANE Select	NP_000129.3:p.His2816Gln