Canonical Allele Identifier: CA392327622

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48717586T>G (hg19) ; chr15:g.48425389T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425389T>G , CM000677.2:g.48425389T>G	GRCh38
NC_000015.9:g.48717586T>G , CM000677.1:g.48717586T>G	GRCh37
NC_000015.8:g.46504878T>G	NCBI36
NG_008805.2:g.225400A>C , LRG_778:g.225400A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*241A>C	ENSP00000453958.2:n.*241A>C
ENST00000674301.2:c.*946A>C	ENSP00000501333.2:n.*946A>C
ENST00000682170.1:n.1614A>C
ENST00000682767.1:n.730A>C
ENST00000316623.10:c.7433A>C MANE Select	ENSP00000325527.5:p.Glu2478Ala
ENST00000674301.1:c.2599A>C	ENSP00000501333.1:n.2599A>C
ENST00000316623.9:c.7433A>C	ENSP00000325527.5:p.Glu2478Ala
ENST00000559133.5:c.2802A>C
NM_000138.4:c.7433A>C , LRG_778t1:c.7433A>C	NP_000129.3:p.Glu2478Ala
NM_000138.5:c.7433A>C MANE Select	NP_000129.3:p.Glu2478Ala