Canonical Allele Identifier: CA490018226

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48722959T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6780A>G	ENSP00000453958.2:p.Glu2260=
ENST00000674301.2:c.*231A>G	ENSP00000501333.2:n.*231A>G
ENST00000682170.1:n.389A>G
ENST00000316623.10:c.6780A>G MANE Select	ENSP00000325527.5:p.Glu2260=
ENST00000674301.1:c.1884A>G	ENSP00000501333.1:n.1884A>G
ENST00000316623.9:c.6780A>G	ENSP00000325527.5:p.Glu2260=
ENST00000559133.5:c.2087A>G
ENST00000560720.1:n.67A>G
NM_000138.4:c.6780A>G , LRG_778t1:c.6780A>G	NP_000129.3:p.Glu2260=
NM_000138.5:c.6780A>G MANE Select	NP_000129.3:p.Glu2260=