Canonical Allele Identifier: CA392330926

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549373
• ClinVar RCV Id: RCV000663908
• dbSNP Id: rs1555394647
• MyVariant Identifiers: chr15:g.48720659T>G (hg19) ; chr15:g.48428462T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428462T>G , CM000677.2:g.48428462T>G	GRCh38
NC_000015.9:g.48720659T>G , CM000677.1:g.48720659T>G	GRCh37
NC_000015.8:g.46507951T>G	NCBI36
NG_008805.2:g.222327A>C , LRG_778:g.222327A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6881A>C	ENSP00000453958.2:p.Glu2294Ala
ENST00000674301.2:c.*332A>C	ENSP00000501333.2:n.*332A>C
ENST00000682170.1:n.490A>C
ENST00000682767.1:n.116A>C
ENST00000316623.10:c.6881A>C MANE Select	ENSP00000325527.5:p.Glu2294Ala
ENST00000674301.1:c.1985A>C	ENSP00000501333.1:n.1985A>C
ENST00000316623.9:c.6881A>C	ENSP00000325527.5:p.Glu2294Ala
ENST00000559133.5:c.2188A>C
ENST00000560720.1:n.168A>C
NM_000138.4:c.6881A>C , LRG_778t1:c.6881A>C	NP_000129.3:p.Glu2294Ala
NM_000138.5:c.6881A>C MANE Select	NP_000129.3:p.Glu2294Ala