Canonical Allele Identifier: CA392319283

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703420T>C (hg19) ; chr15:g.48411223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411223T>C , CM000677.2:g.48411223T>C	GRCh38
NC_000015.9:g.48703420T>C , CM000677.1:g.48703420T>C	GRCh37
NC_000015.8:g.46490712T>C	NCBI36
NG_008805.2:g.239566A>G , LRG_778:g.239566A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1191A>G	ENSP00000453958.2:n.*1191A>G
ENST00000674301.2:c.*1896A>G	ENSP00000501333.2:n.*1896A>G
ENST00000682158.1:n.1764A>G
ENST00000682170.1:n.2564A>G
ENST00000682767.1:n.1680A>G
ENST00000316623.10:c.8383A>G MANE Select	ENSP00000325527.5:p.Ile2795Val
ENST00000674301.1:c.3549A>G	ENSP00000501333.1:n.3549A>G
ENST00000316623.9:c.8383A>G	ENSP00000325527.5:p.Ile2795Val
ENST00000559133.5:c.3752A>G
ENST00000561429.1:n.638A>G
NM_000138.4:c.8383A>G , LRG_778t1:c.8383A>G	NP_000129.3:p.Ile2795Val
NM_000138.5:c.8383A>G MANE Select	NP_000129.3:p.Ile2795Val