Canonical Allele Identifier: CA392453390

Gene: FBN1

Linked Data

• ClinVar Variation Id: 495559
• ClinVar RCV Id: RCV000586947
• dbSNP Id: rs727503058
• MyVariant Identifiers: chr15:g.48936801A>T (hg19) ; chr15:g.48644604A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48644604A>T , CM000677.2:g.48644604A>T	GRCh38
NC_000015.9:g.48936801A>T , CM000677.1:g.48936801A>T	GRCh37
NC_000015.8:g.46724093A>T	NCBI36
NG_008805.2:g.6185T>A , LRG_778:g.6185T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.164+2T>A	ENSP00000453958.2:n.164+2T>A
ENST00000674301.2:c.164+2T>A	ENSP00000501333.2:n.164+2T>A
ENST00000316623.10:c.164+2T>A MANE Select	ENSP00000325527.5:n.164+2T>A
ENST00000316623.9:c.164+2T>A	ENSP00000325527.5:n.164+2T>A
ENST00000537463.6:c.164+2T>A	ENSP00000440294.2:n.164+2T>A
ENST00000558230.1:n.227+2T>A
ENST00000560355.1:c.166T>A	ENSP00000453901.1:p.Ter56Lys
NM_000138.4:c.164+2T>A , LRG_778t1:c.164+2T>A	NP_000129.3:n.164+2T>A
NM_000138.5:c.164+2T>A MANE Select	NP_000129.3:n.164+2T>A