Canonical Allele Identifier: CA392332665

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722963G>A (hg19) ; chr15:g.48430766G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430766G>A , CM000677.2:g.48430766G>A	GRCh38
NC_000015.9:g.48722963G>A , CM000677.1:g.48722963G>A	GRCh37
NC_000015.8:g.46510255G>A	NCBI36
NG_008805.2:g.220023C>T , LRG_778:g.220023C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6776C>T	ENSP00000453958.2:p.Thr2259Ile
ENST00000674301.2:c.*227C>T	ENSP00000501333.2:n.*227C>T
ENST00000682170.1:n.385C>T
ENST00000316623.10:c.6776C>T MANE Select	ENSP00000325527.5:p.Thr2259Ile
ENST00000674301.1:c.1880C>T	ENSP00000501333.1:n.1880C>T
ENST00000316623.9:c.6776C>T	ENSP00000325527.5:p.Thr2259Ile
ENST00000537463.6:c.*2539C>T	ENSP00000440294.2:n.*2539C>T
ENST00000559133.5:c.2083C>T
ENST00000560720.1:n.63C>T
NM_000138.4:c.6776C>T , LRG_778t1:c.6776C>T	NP_000129.3:p.Thr2259Ile
NM_000138.5:c.6776C>T MANE Select	NP_000129.3:p.Thr2259Ile