Canonical Allele Identifier: CA392325846

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48714158A>T (hg19) ; chr15:g.48421961A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421961A>T , CM000677.2:g.48421961A>T	GRCh38
NC_000015.9:g.48714158A>T , CM000677.1:g.48714158A>T	GRCh37
NC_000015.8:g.46501450A>T	NCBI36
NG_008805.2:g.228828T>A , LRG_778:g.228828T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*369T>A	ENSP00000453958.2:n.*369T>A
ENST00000674301.2:c.*1074T>A	ENSP00000501333.2:n.*1074T>A
ENST00000682170.1:n.1742T>A
ENST00000682767.1:n.858T>A
ENST00000316623.10:c.7561T>A MANE Select	ENSP00000325527.5:p.Ser2521Thr
ENST00000674301.1:c.2727T>A	ENSP00000501333.1:n.2727T>A
ENST00000316623.9:c.7561T>A	ENSP00000325527.5:p.Ser2521Thr
ENST00000559133.5:c.2930T>A
NM_000138.4:c.7561T>A , LRG_778t1:c.7561T>A	NP_000129.3:p.Ser2521Thr
NM_000138.5:c.7561T>A MANE Select	NP_000129.3:p.Ser2521Thr