Canonical Allele Identifier: CA392321652

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2123169
• ClinVar RCV Id: RCV003054941
• MyVariant Identifiers: chr15:g.48704935C>T (hg19) ; chr15:g.48412738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412738C>T , CM000677.2:g.48412738C>T	GRCh38
NC_000015.9:g.48704935C>T , CM000677.1:g.48704935C>T	GRCh37
NC_000015.8:g.46492227C>T	NCBI36
NG_008805.2:g.238051G>A , LRG_778:g.238051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*865G>A	ENSP00000453958.2:n.*865G>A
ENST00000674301.2:c.*1570G>A	ENSP00000501333.2:n.*1570G>A
ENST00000682158.1:n.1438G>A
ENST00000682170.1:n.2238G>A
ENST00000682767.1:n.1354G>A
ENST00000316623.10:c.8057G>A MANE Select	ENSP00000325527.5:p.Cys2686Tyr
ENST00000674301.1:c.3223G>A	ENSP00000501333.1:n.3223G>A
ENST00000316623.9:c.8057G>A	ENSP00000325527.5:p.Cys2686Tyr
ENST00000559133.5:c.3426G>A
ENST00000561429.1:n.312G>A
NM_000138.4:c.8057G>A , LRG_778t1:c.8057G>A	NP_000129.3:p.Cys2686Tyr
NM_000138.5:c.8057G>A MANE Select	NP_000129.3:p.Cys2686Tyr