Canonical Allele Identifier: CA490014761

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704901T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412704T>A , CM000677.2:g.48412704T>A	GRCh38
NC_000015.9:g.48704901T>A , CM000677.1:g.48704901T>A	GRCh37
NC_000015.8:g.46492193T>A	NCBI36
NG_008805.2:g.238085A>T , LRG_778:g.238085A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*899A>T	ENSP00000453958.2:n.*899A>T
ENST00000674301.2:c.*1604A>T	ENSP00000501333.2:n.*1604A>T
ENST00000682158.1:n.1472A>T
ENST00000682170.1:n.2272A>T
ENST00000682767.1:n.1388A>T
ENST00000316623.10:c.8091A>T MANE Select	ENSP00000325527.5:p.Pro2697=
ENST00000674301.1:c.3257A>T	ENSP00000501333.1:n.3257A>T
ENST00000316623.9:c.8091A>T	ENSP00000325527.5:p.Pro2697=
ENST00000559133.5:c.3460A>T
ENST00000561429.1:n.346A>T
NM_000138.4:c.8091A>T , LRG_778t1:c.8091A>T	NP_000129.3:p.Pro2697=
NM_000138.5:c.8091A>T MANE Select	NP_000129.3:p.Pro2697=