Canonical Allele Identifier: CA392336833

Gene: FBN1

Linked Data

• ClinVar Variation Id: 429578
• ClinVar RCV Id: RCV000492855 ; RCV001334258 ; RCV001064950
• dbSNP Id: rs1131691467
• MyVariant Identifiers: chr15:g.48729566C>T (hg19) ; chr15:g.48437369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437369C>T , CM000677.2:g.48437369C>T	GRCh38
NC_000015.9:g.48729566C>T , CM000677.1:g.48729566C>T	GRCh37
NC_000015.8:g.46516858C>T	NCBI36
NG_008805.2:g.213420G>A , LRG_778:g.213420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6332G>A	ENSP00000453958.2:p.Cys2111Tyr
ENST00000674301.2:c.6332G>A	ENSP00000501333.2:p.Cys2111Tyr
ENST00000316623.10:c.6332G>A MANE Select	ENSP00000325527.5:p.Cys2111Tyr
ENST00000674301.1:c.1331G>A	ENSP00000501333.1:p.Cys444Tyr
ENST00000316623.9:c.6332G>A	ENSP00000325527.5:p.Cys2111Tyr
ENST00000537463.6:c.*2095G>A	ENSP00000440294.2:n.*2095G>A
ENST00000559133.5:c.1639G>A
NM_000138.4:c.6332G>A , LRG_778t1:c.6332G>A	NP_000129.3:p.Cys2111Tyr
NM_000138.5:c.6332G>A MANE Select	NP_000129.3:p.Cys2111Tyr