Canonical Allele Identifier: CA392318836

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703317A>T (hg19) ; chr15:g.48411120A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411120A>T , CM000677.2:g.48411120A>T	GRCh38
NC_000015.9:g.48703317A>T , CM000677.1:g.48703317A>T	GRCh37
NC_000015.8:g.46490609A>T	NCBI36
NG_008805.2:g.239669T>A , LRG_778:g.239669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1294T>A	ENSP00000453958.2:n.*1294T>A
ENST00000674301.2:c.*1999T>A	ENSP00000501333.2:n.*1999T>A
ENST00000682158.1:n.1867T>A
ENST00000682170.1:n.2667T>A
ENST00000682767.1:n.1783T>A
ENST00000316623.10:c.8486T>A MANE Select	ENSP00000325527.5:p.Leu2829Ter
ENST00000674301.1:c.3652T>A	ENSP00000501333.1:n.3652T>A
ENST00000316623.9:c.8486T>A	ENSP00000325527.5:p.Leu2829Ter
ENST00000559133.5:c.3855T>A
NM_000138.4:c.8486T>A , LRG_778t1:c.8486T>A	NP_000129.3:p.Leu2829Ter
NM_000138.5:c.8486T>A MANE Select	NP_000129.3:p.Leu2829Ter