Canonical Allele Identifier: CA392354256

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549231
• ClinVar RCV Id: RCV000663727
• dbSNP Id: rs111978932
• MyVariant Identifiers: chr15:g.48762836C>T (hg19) ; chr15:g.48470639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48470639C>T , CM000677.2:g.48470639C>T	GRCh38
NC_000015.9:g.48762836C>T , CM000677.1:g.48762836C>T	GRCh37
NC_000015.8:g.46550128C>T	NCBI36
NG_008805.2:g.180150G>A , LRG_778:g.180150G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4454G>A	ENSP00000453958.2:p.Cys1485Tyr
ENST00000674301.2:c.4454G>A	ENSP00000501333.2:p.Cys1485Tyr
ENST00000683268.1:n.421G>A
ENST00000684448.1:n.3128G>A
ENST00000316623.10:c.4454G>A MANE Select	ENSP00000325527.5:p.Cys1485Tyr
ENST00000316623.9:c.4454G>A	ENSP00000325527.5:p.Cys1485Tyr
ENST00000537463.6:c.*217G>A	ENSP00000440294.2:n.*217G>A
NM_000138.4:c.4454G>A , LRG_778t1:c.4454G>A	NP_000129.3:p.Cys1485Tyr
NM_000138.5:c.4454G>A MANE Select	NP_000129.3:p.Cys1485Tyr