Canonical Allele Identifier: CA490018228

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722962A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430765A>T , CM000677.2:g.48430765A>T	GRCh38
NC_000015.9:g.48722962A>T , CM000677.1:g.48722962A>T	GRCh37
NC_000015.8:g.46510254A>T	NCBI36
NG_008805.2:g.220024T>A , LRG_778:g.220024T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6777T>A	ENSP00000453958.2:p.Thr2259=
ENST00000674301.2:c.*228T>A	ENSP00000501333.2:n.*228T>A
ENST00000682170.1:n.386T>A
ENST00000316623.10:c.6777T>A MANE Select	ENSP00000325527.5:p.Thr2259=
ENST00000674301.1:c.1881T>A	ENSP00000501333.1:n.1881T>A
ENST00000316623.9:c.6777T>A	ENSP00000325527.5:p.Thr2259=
ENST00000537463.6:c.*2540T>A	ENSP00000440294.2:n.*2540T>A
ENST00000559133.5:c.2084T>A
ENST00000560720.1:n.64T>A
NM_000138.4:c.6777T>A , LRG_778t1:c.6777T>A	NP_000129.3:p.Thr2259=
NM_000138.5:c.6777T>A MANE Select	NP_000129.3:p.Thr2259=