Canonical Allele Identifier: CA392333706

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549354
• ClinVar RCV Id: RCV000663885
• dbSNP Id: rs794728253
• MyVariant Identifiers: chr15:g.48725174A>T (hg19) ; chr15:g.48432977A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432977A>T , CM000677.2:g.48432977A>T	GRCh38
NC_000015.9:g.48725174A>T , CM000677.1:g.48725174A>T	GRCh37
NC_000015.8:g.46512466A>T	NCBI36
NG_008805.2:g.217812T>A , LRG_778:g.217812T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6628T>A	ENSP00000453958.2:p.Cys2210Ser
ENST00000674301.2:c.*79T>A	ENSP00000501333.2:n.*79T>A
ENST00000682170.1:n.237T>A
ENST00000316623.10:c.6628T>A MANE Select	ENSP00000325527.5:p.Cys2210Ser
ENST00000674301.1:c.1732T>A	ENSP00000501333.1:n.1732T>A
ENST00000316623.9:c.6628T>A	ENSP00000325527.5:p.Cys2210Ser
ENST00000537463.6:c.*2391T>A	ENSP00000440294.2:n.*2391T>A
ENST00000559133.5:c.1935T>A
NM_000138.4:c.6628T>A , LRG_778t1:c.6628T>A	NP_000129.3:p.Cys2210Ser
NM_000138.5:c.6628T>A MANE Select	NP_000129.3:p.Cys2210Ser