Canonical Allele Identifier: CA392340088

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48737649G>T (hg19) ; chr15:g.48445452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445452G>T , CM000677.2:g.48445452G>T	GRCh38
NC_000015.9:g.48737649G>T , CM000677.1:g.48737649G>T	GRCh37
NC_000015.8:g.46524941G>T	NCBI36
NG_008805.2:g.205337C>A , LRG_778:g.205337C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5841C>A	ENSP00000453958.2:p.Cys1947Ter
ENST00000674301.2:c.5841C>A	ENSP00000501333.2:p.Cys1947Ter
ENST00000684448.1:n.4515C>A
ENST00000316623.10:c.5841C>A MANE Select	ENSP00000325527.5:p.Cys1947Ter
ENST00000674301.1:c.840C>A	ENSP00000501333.1:p.Cys280Ter
ENST00000316623.9:c.5841C>A	ENSP00000325527.5:p.Cys1947Ter
ENST00000537463.6:c.*1604C>A	ENSP00000440294.2:n.*1604C>A
ENST00000559133.5:c.1148C>A
NM_000138.4:c.5841C>A , LRG_778t1:c.5841C>A	NP_000129.3:p.Cys1947Ter
NM_000138.5:c.5841C>A MANE Select	NP_000129.3:p.Cys1947Ter