Canonical Allele Identifier: CA017263

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42428
• ClinVar RCV Id: RCV000035273
• dbSNP Id: rs397515853
• MyVariant Identifiers: chr15:g.48713874T>G (hg19) ; chr15:g.48421677T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421677T>G , CM000677.2:g.48421677T>G	GRCh38
NC_000015.9:g.48713874T>G , CM000677.1:g.48713874T>G	GRCh37
NC_000015.8:g.46501166T>G	NCBI36
NG_008805.2:g.229112A>C , LRG_778:g.229112A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*388A>C	ENSP00000453958.2:n.*388A>C
ENST00000674301.2:c.*1093A>C	ENSP00000501333.2:n.*1093A>C
ENST00000682170.1:n.1761A>C
ENST00000682767.1:n.877A>C
ENST00000316623.10:c.7580A>C MANE Select	ENSP00000325527.5:p.Glu2527Ala
ENST00000674301.1:c.2746A>C	ENSP00000501333.1:n.2746A>C
ENST00000316623.9:c.7580A>C	ENSP00000325527.5:p.Glu2527Ala
ENST00000559133.5:c.2949A>C
NM_000138.4:c.7580A>C , LRG_778t1:c.7580A>C	NP_000129.3:p.Glu2527Ala
NM_000138.5:c.7580A>C MANE Select	NP_000129.3:p.Glu2527Ala