Canonical Allele Identifier: CA392332635

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722959T>G (hg19) ; chr15:g.48430762T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430762T>G , CM000677.2:g.48430762T>G	GRCh38
NC_000015.9:g.48722959T>G , CM000677.1:g.48722959T>G	GRCh37
NC_000015.8:g.46510251T>G	NCBI36
NG_008805.2:g.220027A>C , LRG_778:g.220027A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6780A>C	ENSP00000453958.2:p.Glu2260Asp
ENST00000674301.2:c.*231A>C	ENSP00000501333.2:n.*231A>C
ENST00000682170.1:n.389A>C
ENST00000316623.10:c.6780A>C MANE Select	ENSP00000325527.5:p.Glu2260Asp
ENST00000674301.1:c.1884A>C	ENSP00000501333.1:n.1884A>C
ENST00000316623.9:c.6780A>C	ENSP00000325527.5:p.Glu2260Asp
ENST00000559133.5:c.2087A>C
ENST00000560720.1:n.67A>C
NM_000138.4:c.6780A>C , LRG_778t1:c.6780A>C	NP_000129.3:p.Glu2260Asp
NM_000138.5:c.6780A>C MANE Select	NP_000129.3:p.Glu2260Asp