Canonical Allele Identifier: CA392318830

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48703316T>G (hg19) ; chr15:g.48411119T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411119T>G , CM000677.2:g.48411119T>G	GRCh38
NC_000015.9:g.48703316T>G , CM000677.1:g.48703316T>G	GRCh37
NC_000015.8:g.46490608T>G	NCBI36
NG_008805.2:g.239670A>C , LRG_778:g.239670A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1295A>C	ENSP00000453958.2:n.*1295A>C
ENST00000674301.2:c.*2000A>C	ENSP00000501333.2:n.*2000A>C
ENST00000682158.1:n.1868A>C
ENST00000682170.1:n.2668A>C
ENST00000682767.1:n.1784A>C
ENST00000316623.10:c.8487A>C MANE Select	ENSP00000325527.5:p.Leu2829Phe
ENST00000674301.1:c.3653A>C	ENSP00000501333.1:n.3653A>C
ENST00000316623.9:c.8487A>C	ENSP00000325527.5:p.Leu2829Phe
ENST00000559133.5:c.3856A>C
NM_000138.4:c.8487A>C , LRG_778t1:c.8487A>C	NP_000129.3:p.Leu2829Phe
NM_000138.5:c.8487A>C MANE Select	NP_000129.3:p.Leu2829Phe