Canonical Allele Identifier: CA015886

Gene: FBN1

Linked Data

• ClinVar Variation Id: 36090
• ClinVar RCV Id: RCV000029752 ; RCV003764642
• dbSNP Id: rs193922214
• MyVariant Identifiers: chr15:g.48741084T>C (hg19) ; chr15:g.48448887T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448887T>C , CM000677.2:g.48448887T>C	GRCh38
NC_000015.9:g.48741084T>C , CM000677.1:g.48741084T>C	GRCh37
NC_000015.8:g.46528376T>C	NCBI36
NG_008805.2:g.201902A>G , LRG_778:g.201902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5552A>G	ENSP00000453958.2:p.Asn1851Ser
ENST00000674301.2:c.5552A>G	ENSP00000501333.2:p.Asn1851Ser
ENST00000684448.1:n.4226A>G
ENST00000316623.10:c.5552A>G MANE Select	ENSP00000325527.5:p.Asn1851Ser
ENST00000674301.1:c.551A>G	ENSP00000501333.1:p.Asn184Ser
ENST00000316623.9:c.5552A>G	ENSP00000325527.5:p.Asn1851Ser
ENST00000537463.6:c.*1315A>G	ENSP00000440294.2:n.*1315A>G
ENST00000559133.5:c.859A>G
NM_000138.4:c.5552A>G , LRG_778t1:c.5552A>G	NP_000129.3:p.Asn1851Ser
NM_000138.5:c.5552A>G MANE Select	NP_000129.3:p.Asn1851Ser