Canonical Allele Identifier: CA392353818

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549235
• ClinVar RCV Id: RCV002331298
• dbSNP Id: rs1060501076
• MyVariant Identifiers: chr15:g.48760723C>T (hg19) ; chr15:g.48468526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468526C>T , CM000677.2:g.48468526C>T	GRCh38
NC_000015.9:g.48760723C>T , CM000677.1:g.48760723C>T	GRCh37
NC_000015.8:g.46548015C>T	NCBI36
NG_008805.2:g.182263G>A , LRG_778:g.182263G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4468G>A	ENSP00000453958.2:p.Glu1490Lys
ENST00000674301.2:c.4468G>A	ENSP00000501333.2:p.Glu1490Lys
ENST00000684448.1:n.3142G>A
ENST00000316623.10:c.4468G>A MANE Select	ENSP00000325527.5:p.Glu1490Lys
ENST00000316623.9:c.4468G>A	ENSP00000325527.5:p.Glu1490Lys
ENST00000537463.6:c.*231G>A	ENSP00000440294.2:n.*231G>A
NM_000138.4:c.4468G>A , LRG_778t1:c.4468G>A	NP_000129.3:p.Glu1490Lys
NM_000138.5:c.4468G>A MANE Select	NP_000129.3:p.Glu1490Lys