Canonical Allele Identifier: CA392342618

Gene: FBN1

Linked Data

• ClinVar Variation Id: 653004
• ClinVar RCV Id: RCV000808687
• dbSNP Id: rs1555400288
• MyVariant Identifiers: chr15:g.48805824A>T (hg19) ; chr15:g.48513627A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48513627A>T , CM000677.2:g.48513627A>T	GRCh38
NC_000015.9:g.48805824A>T , CM000677.1:g.48805824A>T	GRCh37
NC_000015.8:g.46593116A>T	NCBI36
NG_008805.2:g.137162T>A , LRG_778:g.137162T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1510T>A	ENSP00000453958.2:p.Cys504Ser
ENST00000674301.2:c.1510T>A	ENSP00000501333.2:p.Cys504Ser
ENST00000684448.1:n.184T>A
ENST00000316623.10:c.1510T>A MANE Select	ENSP00000325527.5:p.Cys504Ser
ENST00000316623.9:c.1510T>A	ENSP00000325527.5:p.Cys504Ser
ENST00000537463.6:c.636+24084T>A	ENSP00000440294.2:n.636+24084T>A
NM_000138.4:c.1510T>A , LRG_778t1:c.1510T>A	NP_000129.3:p.Cys504Ser
NM_000138.5:c.1510T>A MANE Select	NP_000129.3:p.Cys504Ser