Canonical Allele Identifier: CA392344113

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549282
• ClinVar RCV Id: RCV000663790 ; RCV000690179
• dbSNP Id: rs1555396198
• MyVariant Identifiers: chr15:g.48744801A>T (hg19) ; chr15:g.48452604A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48452604A>T , CM000677.2:g.48452604A>T	GRCh38
NC_000015.9:g.48744801A>T , CM000677.1:g.48744801A>T	GRCh37
NC_000015.8:g.46532093A>T	NCBI36
NG_008805.2:g.198185T>A , LRG_778:g.198185T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5503T>A	ENSP00000453958.2:p.Cys1835Ser
ENST00000674301.2:c.5503T>A	ENSP00000501333.2:p.Cys1835Ser
ENST00000684448.1:n.4177T>A
ENST00000316623.10:c.5503T>A MANE Select	ENSP00000325527.5:p.Cys1835Ser
ENST00000674301.1:c.502T>A	ENSP00000501333.1:p.Cys168Ser
ENST00000316623.9:c.5503T>A	ENSP00000325527.5:p.Cys1835Ser
ENST00000537463.6:c.*1266T>A	ENSP00000440294.2:n.*1266T>A
ENST00000559133.5:c.810T>A
NM_000138.4:c.5503T>A , LRG_778t1:c.5503T>A	NP_000129.3:p.Cys1835Ser
NM_000138.5:c.5503T>A MANE Select	NP_000129.3:p.Cys1835Ser