Canonical Allele Identifier: CA017362

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200120
• ClinVar RCV Id: RCV000181614 ; RCV002408786 ; RCV002517773 ; RCV003982934
• dbSNP Id: rs112118237
• MyVariant Identifiers: chr15:g.48712928C>T (hg19) ; chr15:g.48420731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420731C>T , CM000677.2:g.48420731C>T	GRCh38
NC_000015.9:g.48712928C>T , CM000677.1:g.48712928C>T	GRCh37
NC_000015.8:g.46500220C>T	NCBI36
NG_008805.2:g.230058G>A , LRG_778:g.230058G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*583G>A	ENSP00000453958.2:n.*583G>A
ENST00000674301.2:c.*1288G>A	ENSP00000501333.2:n.*1288G>A
ENST00000682170.1:n.1956G>A
ENST00000682767.1:n.1072G>A
ENST00000316623.10:c.7775G>A MANE Select	ENSP00000325527.5:p.Cys2592Tyr
ENST00000674301.1:c.2941G>A	ENSP00000501333.1:n.2941G>A
ENST00000316623.9:c.7775G>A	ENSP00000325527.5:p.Cys2592Tyr
ENST00000559133.5:c.3144G>A
NM_000138.4:c.7775G>A , LRG_778t1:c.7775G>A	NP_000129.3:p.Cys2592Tyr
NM_000138.5:c.7775G>A MANE Select	NP_000129.3:p.Cys2592Tyr