Canonical Allele Identifier: CA490014775

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704910T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412713T>A , CM000677.2:g.48412713T>A	GRCh38
NC_000015.9:g.48704910T>A , CM000677.1:g.48704910T>A	GRCh37
NC_000015.8:g.46492202T>A	NCBI36
NG_008805.2:g.238076A>T , LRG_778:g.238076A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*890A>T	ENSP00000453958.2:n.*890A>T
ENST00000674301.2:c.*1595A>T	ENSP00000501333.2:n.*1595A>T
ENST00000682158.1:n.1463A>T
ENST00000682170.1:n.2263A>T
ENST00000682767.1:n.1379A>T
ENST00000316623.10:c.8082A>T MANE Select	ENSP00000325527.5:p.Arg2694=
ENST00000674301.1:c.3248A>T	ENSP00000501333.1:n.3248A>T
ENST00000316623.9:c.8082A>T	ENSP00000325527.5:p.Arg2694=
ENST00000559133.5:c.3451A>T
ENST00000561429.1:n.337A>T
NM_000138.4:c.8082A>T , LRG_778t1:c.8082A>T	NP_000129.3:p.Arg2694=
NM_000138.5:c.8082A>T MANE Select	NP_000129.3:p.Arg2694=