Canonical Allele Identifier: CA490118977

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703457T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411260T>A , CM000677.2:g.48411260T>A	GRCh38
NC_000015.9:g.48703457T>A , CM000677.1:g.48703457T>A	GRCh37
NC_000015.8:g.46490749T>A	NCBI36
NG_008805.2:g.239529A>T , LRG_778:g.239529A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*1154A>T	ENSP00000453958.2:n.*1154A>T
ENST00000674301.2:c.*1859A>T	ENSP00000501333.2:n.*1859A>T
ENST00000682158.1:n.1727A>T
ENST00000682170.1:n.2527A>T
ENST00000682767.1:n.1643A>T
ENST00000316623.10:c.8346A>T MANE Select	ENSP00000325527.5:p.Pro2782=
ENST00000674301.1:c.3512A>T	ENSP00000501333.1:n.3512A>T
ENST00000316623.9:c.8346A>T	ENSP00000325527.5:p.Pro2782=
ENST00000559133.5:c.3715A>T
ENST00000561429.1:n.601A>T
NM_000138.4:c.8346A>T , LRG_778t1:c.8346A>T	NP_000129.3:p.Pro2782=
NM_000138.5:c.8346A>T MANE Select	NP_000129.3:p.Pro2782=