Canonical Allele Identifier: CA490015818

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48713840C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421643C>T , CM000677.2:g.48421643C>T	GRCh38
NC_000015.9:g.48713840C>T , CM000677.1:g.48713840C>T	GRCh37
NC_000015.8:g.46501132C>T	NCBI36
NG_008805.2:g.229146G>A , LRG_778:g.229146G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*422G>A	ENSP00000453958.2:n.*422G>A
ENST00000674301.2:c.*1127G>A	ENSP00000501333.2:n.*1127G>A
ENST00000682170.1:n.1795G>A
ENST00000682767.1:n.911G>A
ENST00000316623.10:c.7614G>A MANE Select	ENSP00000325527.5:p.Lys2538=
ENST00000674301.1:c.2780G>A	ENSP00000501333.1:n.2780G>A
ENST00000316623.9:c.7614G>A	ENSP00000325527.5:p.Lys2538=
ENST00000559133.5:c.2983G>A
NM_000138.4:c.7614G>A , LRG_778t1:c.7614G>A	NP_000129.3:p.Lys2538=
NM_000138.5:c.7614G>A MANE Select	NP_000129.3:p.Lys2538=