Canonical Allele Identifier: CA016185

Gene: FBN1

Linked Data

• ClinVar Variation Id: 179119
• ClinVar RCV Id: RCV001269653 ; RCV003998292 ; RCV002313003
• dbSNP Id: rs727504642
• MyVariant Identifiers: chr15:g.48736816C>G (hg19) ; chr15:g.48444619C>G (hg38)
• PubMed: PMID:11748851 ; PMID:19802897

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444619C>G , CM000677.2:g.48444619C>G	GRCh38
NC_000015.9:g.48736816C>G , CM000677.1:g.48736816C>G	GRCh37
NC_000015.8:g.46524108C>G	NCBI36
NG_008805.2:g.206170G>C , LRG_778:g.206170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5959G>C	ENSP00000453958.2:p.Gly1987Arg
ENST00000674301.2:c.5959G>C	ENSP00000501333.2:p.Gly1987Arg
ENST00000684448.1:n.4633G>C
ENST00000316623.10:c.5959G>C MANE Select	ENSP00000325527.5:p.Gly1987Arg
ENST00000674301.1:c.958G>C	ENSP00000501333.1:p.Gly320Arg
ENST00000316623.9:c.5959G>C	ENSP00000325527.5:p.Gly1987Arg
ENST00000537463.6:c.*1722G>C	ENSP00000440294.2:n.*1722G>C
ENST00000559133.5:c.1266G>C
ENST00000560820.1:n.79G>C
NM_000138.4:c.5959G>C , LRG_778t1:c.5959G>C	NP_000129.3:p.Gly1987Arg
NM_000138.5:c.5959G>C MANE Select	NP_000129.3:p.Gly1987Arg