Canonical Allele Identifier: CA392325853

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714162A>T (hg19) ; chr15:g.48421965A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421965A>T , CM000677.2:g.48421965A>T	GRCh38
NC_000015.9:g.48714162A>T , CM000677.1:g.48714162A>T	GRCh37
NC_000015.8:g.46501454A>T	NCBI36
NG_008805.2:g.228824T>A , LRG_778:g.228824T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*365T>A	ENSP00000453958.2:n.*365T>A
ENST00000674301.2:c.*1070T>A	ENSP00000501333.2:n.*1070T>A
ENST00000682170.1:n.1738T>A
ENST00000682767.1:n.854T>A
ENST00000316623.10:c.7557T>A MANE Select	ENSP00000325527.5:p.His2519Gln
ENST00000674301.1:c.2723T>A	ENSP00000501333.1:n.2723T>A
ENST00000316623.9:c.7557T>A	ENSP00000325527.5:p.His2519Gln
ENST00000559133.5:c.2926T>A
NM_000138.4:c.7557T>A , LRG_778t1:c.7557T>A	NP_000129.3:p.His2519Gln
NM_000138.5:c.7557T>A MANE Select	NP_000129.3:p.His2519Gln