Canonical Allele Identifier: CA490015690

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713834A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421637A>G , CM000677.2:g.48421637A>G	GRCh38
NC_000015.9:g.48713834A>G , CM000677.1:g.48713834A>G	GRCh37
NC_000015.8:g.46501126A>G	NCBI36
NG_008805.2:g.229152T>C , LRG_778:g.229152T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*428T>C	ENSP00000453958.2:n.*428T>C
ENST00000674301.2:c.*1133T>C	ENSP00000501333.2:n.*1133T>C
ENST00000682170.1:n.1801T>C
ENST00000682767.1:n.917T>C
ENST00000316623.10:c.7620T>C MANE Select	ENSP00000325527.5:p.Ile2540=
ENST00000674301.1:c.2786T>C	ENSP00000501333.1:n.2786T>C
ENST00000316623.9:c.7620T>C	ENSP00000325527.5:p.Ile2540=
ENST00000559133.5:c.2989T>C
NM_000138.4:c.7620T>C , LRG_778t1:c.7620T>C	NP_000129.3:p.Ile2540=
NM_000138.5:c.7620T>C MANE Select	NP_000129.3:p.Ile2540=