Canonical Allele Identifier: CA015315
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36079
ClinVar RCV Id: RCV000029741
dbSNP Id: rs193922207

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468001A>T , CM000677.2:g.48468001A>T GRCh38
NC_000015.9:g.48760198A>T , CM000677.1:g.48760198A>T GRCh37
NC_000015.8:g.46547490A>T NCBI36
NG_008805.2:g.182788T>A , LRG_778:g.182788T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4684T>A ENSP00000453958.2:p.Cys1562Ser
ENST00000674301.2:c.4684T>A ENSP00000501333.2:p.Cys1562Ser
ENST00000684448.1:n.3358T>A
ENST00000316623.10:c.4684T>A MANE Select ENSP00000325527.5:p.Cys1562Ser
ENST00000316623.9:c.4684T>A ENSP00000325527.5:p.Cys1562Ser
ENST00000537463.6:c.*447T>A ENSP00000440294.2:n.*447T>A
NM_000138.4:c.4684T>A , LRG_778t1:c.4684T>A NP_000129.3:p.Cys1562Ser
NM_000138.5:c.4684T>A MANE Select NP_000129.3:p.Cys1562Ser