Canonical Allele Identifier: CA392320788

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704798T>A (hg19) ; chr15:g.48412601T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412601T>A , CM000677.2:g.48412601T>A	GRCh38
NC_000015.9:g.48704798T>A , CM000677.1:g.48704798T>A	GRCh37
NC_000015.8:g.46492090T>A	NCBI36
NG_008805.2:g.238188A>T , LRG_778:g.238188A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1002A>T	ENSP00000453958.2:n.*1002A>T
ENST00000674301.2:c.*1707A>T	ENSP00000501333.2:n.*1707A>T
ENST00000682158.1:n.1575A>T
ENST00000682170.1:n.2375A>T
ENST00000682767.1:n.1491A>T
ENST00000316623.10:c.8194A>T MANE Select	ENSP00000325527.5:p.Ser2732Cys
ENST00000674301.1:c.3360A>T	ENSP00000501333.1:n.3360A>T
ENST00000316623.9:c.8194A>T	ENSP00000325527.5:p.Ser2732Cys
ENST00000559133.5:c.3563A>T
ENST00000561429.1:n.449A>T
NM_000138.4:c.8194A>T , LRG_778t1:c.8194A>T	NP_000129.3:p.Ser2732Cys
NM_000138.5:c.8194A>T MANE Select	NP_000129.3:p.Ser2732Cys