Canonical Allele Identifier: CA392339485

Gene: FBN1

Linked Data

• gnomAD v4: 15-48444544-C-T
• MyVariant Identifiers: chr15:g.48736741C>T (hg19) ; chr15:g.48444544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444544C>T , CM000677.2:g.48444544C>T	GRCh38
NC_000015.9:g.48736741C>T , CM000677.1:g.48736741C>T	GRCh37
NC_000015.8:g.46524033C>T	NCBI36
NG_008805.2:g.206245G>A , LRG_778:g.206245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6034G>A	ENSP00000453958.2:p.Glu2012Lys
ENST00000674301.2:c.6034G>A	ENSP00000501333.2:p.Glu2012Lys
ENST00000684448.1:n.4708G>A
ENST00000316623.10:c.6034G>A MANE Select	ENSP00000325527.5:p.Glu2012Lys
ENST00000674301.1:c.1033G>A	ENSP00000501333.1:p.Glu345Lys
ENST00000316623.9:c.6034G>A	ENSP00000325527.5:p.Glu2012Lys
ENST00000537463.6:c.*1797G>A	ENSP00000440294.2:n.*1797G>A
ENST00000559133.5:c.1341G>A
ENST00000560820.1:n.154G>A
NM_000138.4:c.6034G>A , LRG_778t1:c.6034G>A	NP_000129.3:p.Glu2012Lys
NM_000138.5:c.6034G>A MANE Select	NP_000129.3:p.Glu2012Lys