Canonical Allele Identifier: CA392322550

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48707752A>T (hg19) ; chr15:g.48415555A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415555A>T , CM000677.2:g.48415555A>T	GRCh38
NC_000015.9:g.48707752A>T , CM000677.1:g.48707752A>T	GRCh37
NC_000015.8:g.46495044A>T	NCBI36
NG_008805.2:g.235234T>A , LRG_778:g.235234T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*840T>A	ENSP00000453958.2:n.*840T>A
ENST00000674301.2:c.*1545T>A	ENSP00000501333.2:n.*1545T>A
ENST00000682158.1:n.1413T>A
ENST00000682170.1:n.2213T>A
ENST00000682767.1:n.1329T>A
ENST00000316623.10:c.8032T>A MANE Select	ENSP00000325527.5:p.Tyr2678Asn
ENST00000674301.1:c.3198T>A	ENSP00000501333.1:n.3198T>A
ENST00000316623.9:c.8032T>A	ENSP00000325527.5:p.Tyr2678Asn
ENST00000559133.5:c.3401T>A
ENST00000561429.1:n.287T>A
NM_000138.4:c.8032T>A , LRG_778t1:c.8032T>A	NP_000129.3:p.Tyr2678Asn
NM_000138.5:c.8032T>A MANE Select	NP_000129.3:p.Tyr2678Asn