Canonical Allele Identifier: CA392330949

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428470-A-C
• MyVariant Identifiers: chr15:g.48720667A>C (hg19) ; chr15:g.48428470A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428470A>C , CM000677.2:g.48428470A>C	GRCh38
NC_000015.9:g.48720667A>C , CM000677.1:g.48720667A>C	GRCh37
NC_000015.8:g.46507959A>C	NCBI36
NG_008805.2:g.222319T>G , LRG_778:g.222319T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6873T>G	ENSP00000453958.2:p.Asp2291Glu
ENST00000674301.2:c.*324T>G	ENSP00000501333.2:n.*324T>G
ENST00000682170.1:n.482T>G
ENST00000682767.1:n.108T>G
ENST00000316623.10:c.6873T>G MANE Select	ENSP00000325527.5:p.Asp2291Glu
ENST00000674301.1:c.1977T>G	ENSP00000501333.1:n.1977T>G
ENST00000316623.9:c.6873T>G	ENSP00000325527.5:p.Asp2291Glu
ENST00000559133.5:c.2180T>G
ENST00000560720.1:n.160T>G
NM_000138.4:c.6873T>G , LRG_778t1:c.6873T>G	NP_000129.3:p.Asp2291Glu
NM_000138.5:c.6873T>G MANE Select	NP_000129.3:p.Asp2291Glu