Canonical Allele Identifier: CA016007

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200189
• ClinVar RCV Id: RCV000181696 ; RCV000253306 ; RCV000803899 ; RCV000663811
• dbSNP Id: rs794728333
• COSMIC: COSM1728251
• MyVariant Identifiers: chr15:g.48738965A>G (hg19) ; chr15:g.48446768A>G (hg38)
• PubMed: PMID:11700157 ; PMID:21542060

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446768A>G , CM000677.2:g.48446768A>G	GRCh38
NC_000015.9:g.48738965A>G , CM000677.1:g.48738965A>G	GRCh37
NC_000015.8:g.46526257A>G	NCBI36
NG_008805.2:g.204021T>C , LRG_778:g.204021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5726T>C	ENSP00000453958.2:p.Ile1909Thr
ENST00000674301.2:c.5726T>C	ENSP00000501333.2:p.Ile1909Thr
ENST00000684448.1:n.4400T>C
ENST00000316623.10:c.5726T>C MANE Select	ENSP00000325527.5:p.Ile1909Thr
ENST00000674301.1:c.725T>C	ENSP00000501333.1:p.Ile242Thr
ENST00000316623.9:c.5726T>C	ENSP00000325527.5:p.Ile1909Thr
ENST00000537463.6:c.*1489T>C	ENSP00000440294.2:n.*1489T>C
ENST00000559133.5:c.1033T>C
NM_000138.4:c.5726T>C , LRG_778t1:c.5726T>C	NP_000129.3:p.Ile1909Thr
NM_000138.5:c.5726T>C MANE Select	NP_000129.3:p.Ile1909Thr