Canonical Allele Identifier: CA269518592

Gene: FBN1

Linked Data

• dbSNP Id: rs75007743
• MyVariant Identifiers: chr15:g.48703241G>T (hg19) ; chr15:g.48411044G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411044G>T , CM000677.2:g.48411044G>T	GRCh38
NC_000015.9:g.48703241G>T , CM000677.1:g.48703241G>T	GRCh37
NC_000015.8:g.46490533G>T	NCBI36
NG_008805.2:g.239745C>A , LRG_778:g.239745C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1370C>A	ENSP00000453958.2:n.*1370C>A
ENST00000682158.1:n.1943C>A
ENST00000682170.1:n.2743C>A
ENST00000682767.1:n.1859C>A
ENST00000316623.10:c.8562C>A MANE Select	ENSP00000325527.5:p.Leu2854=
ENST00000316623.9:c.8562C>A	ENSP00000325527.5:p.Leu2854=
ENST00000559133.5:c.3931C>A
NM_000138.4:c.8562C>A , LRG_778t1:c.8562C>A	NP_000129.3:p.Leu2854=
NM_000138.5:c.8562C>A MANE Select	NP_000129.3:p.Leu2854=