Canonical Allele Identifier: CA016342

Gene: FBN1

Linked Data

• ClinVar Variation Id: 16430
• ClinVar RCV Id: RCV000017892 ; RCV000701293
• dbSNP Id: rs267606797
• MyVariant Identifiers: chr15:g.48729559A>C (hg19) ; chr15:g.48437362A>C (hg38)
• PubMed: PMID:8406497 ; PMID:12130534 ; PMID:12130535

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437362A>C , CM000677.2:g.48437362A>C	GRCh38
NC_000015.9:g.48729559A>C , CM000677.1:g.48729559A>C	GRCh37
NC_000015.8:g.46516851A>C	NCBI36
NG_008805.2:g.213427T>G , LRG_778:g.213427T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6339T>G	ENSP00000453958.2:p.Tyr2113Ter
ENST00000674301.2:c.6339T>G	ENSP00000501333.2:p.Tyr2113Ter
ENST00000316623.10:c.6339T>G MANE Select	ENSP00000325527.5:p.Tyr2113Ter
ENST00000674301.1:c.1338T>G	ENSP00000501333.1:p.Tyr446Ter
ENST00000316623.9:c.6339T>G	ENSP00000325527.5:p.Tyr2113Ter
ENST00000537463.6:c.*2102T>G	ENSP00000440294.2:n.*2102T>G
ENST00000559133.5:c.1646T>G
NM_000138.4:c.6339T>G , LRG_778t1:c.6339T>G	NP_000129.3:p.Tyr2113Ter
NM_000138.5:c.6339T>G MANE Select	NP_000129.3:p.Tyr2113Ter