Canonical Allele Identifier: CA017132

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200109
• ClinVar RCV Id: RCV000181596 ; RCV003765119
• dbSNP Id: rs794728269
• MyVariant Identifiers: chr15:g.48718020C>T (hg19) ; chr15:g.48425823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425823C>T , CM000677.2:g.48425823C>T	GRCh38
NC_000015.9:g.48718020C>T , CM000677.1:g.48718020C>T	GRCh37
NC_000015.8:g.46505312C>T	NCBI36
NG_008805.2:g.224966G>A , LRG_778:g.224966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*54G>A	ENSP00000453958.2:n.*54G>A
ENST00000674301.2:c.*759G>A	ENSP00000501333.2:n.*759G>A
ENST00000682170.1:n.1427G>A
ENST00000682767.1:n.543G>A
ENST00000316623.10:c.7246G>A MANE Select	ENSP00000325527.5:p.Gly2416Arg
ENST00000674301.1:c.2412G>A	ENSP00000501333.1:n.2412G>A
ENST00000316623.9:c.7246G>A	ENSP00000325527.5:p.Gly2416Arg
ENST00000559133.5:c.2615G>A
NM_000138.4:c.7246G>A , LRG_778t1:c.7246G>A	NP_000129.3:p.Gly2416Arg
NM_000138.5:c.7246G>A MANE Select	NP_000129.3:p.Gly2416Arg