Canonical Allele Identifier: CA017777

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200135
• ClinVar RCV Id: RCV000694375 ; RCV001001810 ; RCV000181636 ; RCV003278682
• dbSNP Id: rs794728287
• MyVariant Identifiers: chr15:g.48703323T>G (hg19) ; chr15:g.48411126T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411126T>G , CM000677.2:g.48411126T>G	GRCh38
NC_000015.9:g.48703323T>G , CM000677.1:g.48703323T>G	GRCh37
NC_000015.8:g.46490615T>G	NCBI36
NG_008805.2:g.239663A>C , LRG_778:g.239663A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1288A>C	ENSP00000453958.2:n.*1288A>C
ENST00000674301.2:c.*1993A>C	ENSP00000501333.2:n.*1993A>C
ENST00000682158.1:n.1861A>C
ENST00000682170.1:n.2661A>C
ENST00000682767.1:n.1777A>C
ENST00000316623.10:c.8480A>C MANE Select	ENSP00000325527.5:p.Tyr2827Ser
ENST00000674301.1:c.3646A>C	ENSP00000501333.1:n.3646A>C
ENST00000316623.9:c.8480A>C	ENSP00000325527.5:p.Tyr2827Ser
ENST00000559133.5:c.3849A>C
NM_000138.4:c.8480A>C , LRG_778t1:c.8480A>C	NP_000129.3:p.Tyr2827Ser
NM_000138.5:c.8480A>C MANE Select	NP_000129.3:p.Tyr2827Ser