Canonical Allele Identifier: CA392318903

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703333C>T (hg19) ; chr15:g.48411136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411136C>T , CM000677.2:g.48411136C>T	GRCh38
NC_000015.9:g.48703333C>T , CM000677.1:g.48703333C>T	GRCh37
NC_000015.8:g.46490625C>T	NCBI36
NG_008805.2:g.239653G>A , LRG_778:g.239653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1278G>A	ENSP00000453958.2:n.*1278G>A
ENST00000674301.2:c.*1983G>A	ENSP00000501333.2:n.*1983G>A
ENST00000682158.1:n.1851G>A
ENST00000682170.1:n.2651G>A
ENST00000682767.1:n.1767G>A
ENST00000316623.10:c.8470G>A MANE Select	ENSP00000325527.5:p.Ala2824Thr
ENST00000674301.1:c.3636G>A	ENSP00000501333.1:n.3636G>A
ENST00000316623.9:c.8470G>A	ENSP00000325527.5:p.Ala2824Thr
ENST00000559133.5:c.3839G>A
NM_000138.4:c.8470G>A , LRG_778t1:c.8470G>A	NP_000129.3:p.Ala2824Thr
NM_000138.5:c.8470G>A MANE Select	NP_000129.3:p.Ala2824Thr