Canonical Allele Identifier: CA392318452

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703218A>T (hg19) ; chr15:g.48411021A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411021A>T , CM000677.2:g.48411021A>T	GRCh38
NC_000015.9:g.48703218A>T , CM000677.1:g.48703218A>T	GRCh37
NC_000015.8:g.46490510A>T	NCBI36
NG_008805.2:g.239768T>A , LRG_778:g.239768T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1393T>A	ENSP00000453958.2:n.*1393T>A
ENST00000682158.1:n.1966T>A
ENST00000682170.1:n.2766T>A
ENST00000682767.1:n.1882T>A
ENST00000316623.10:c.8585T>A MANE Select	ENSP00000325527.5:p.Leu2862Gln
ENST00000316623.9:c.8585T>A	ENSP00000325527.5:p.Leu2862Gln
ENST00000559133.5:c.3954T>A
NM_000138.4:c.8585T>A , LRG_778t1:c.8585T>A	NP_000129.3:p.Leu2862Gln
NM_000138.5:c.8585T>A MANE Select	NP_000129.3:p.Leu2862Gln