Canonical Allele Identifier: CA490119163

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48707795A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415598A>G , CM000677.2:g.48415598A>G	GRCh38
NC_000015.9:g.48707795A>G , CM000677.1:g.48707795A>G	GRCh37
NC_000015.8:g.46495087A>G	NCBI36
NG_008805.2:g.235191T>C , LRG_778:g.235191T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*797T>C	ENSP00000453958.2:n.*797T>C
ENST00000674301.2:c.*1502T>C	ENSP00000501333.2:n.*1502T>C
ENST00000682158.1:n.1370T>C
ENST00000682170.1:n.2170T>C
ENST00000682767.1:n.1286T>C
ENST00000316623.10:c.7989T>C MANE Select	ENSP00000325527.5:p.Cys2663=
ENST00000674301.1:c.3155T>C	ENSP00000501333.1:n.3155T>C
ENST00000316623.9:c.7989T>C	ENSP00000325527.5:p.Cys2663=
ENST00000559133.5:c.3358T>C
ENST00000561429.1:n.244T>C
NM_000138.4:c.7989T>C , LRG_778t1:c.7989T>C	NP_000129.3:p.Cys2663=
NM_000138.5:c.7989T>C MANE Select	NP_000129.3:p.Cys2663=