Canonical Allele Identifier: CA392320733

Gene: FBN1

Linked Data

• MyVariant Identifiers: chr15:g.48704790G>C (hg19) ; chr15:g.48412593G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412593G>C , CM000677.2:g.48412593G>C	GRCh38
NC_000015.9:g.48704790G>C , CM000677.1:g.48704790G>C	GRCh37
NC_000015.8:g.46492082G>C	NCBI36
NG_008805.2:g.238196C>G , LRG_778:g.238196C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1010C>G	ENSP00000453958.2:n.*1010C>G
ENST00000674301.2:c.*1715C>G	ENSP00000501333.2:n.*1715C>G
ENST00000682158.1:n.1583C>G
ENST00000682170.1:n.2383C>G
ENST00000682767.1:n.1499C>G
ENST00000316623.10:c.8202C>G MANE Select	ENSP00000325527.5:p.Asn2734Lys
ENST00000674301.1:c.3368C>G	ENSP00000501333.1:n.3368C>G
ENST00000316623.9:c.8202C>G	ENSP00000325527.5:p.Asn2734Lys
ENST00000559133.5:c.3571C>G
ENST00000561429.1:n.457C>G
NM_000138.4:c.8202C>G , LRG_778t1:c.8202C>G	NP_000129.3:p.Asn2734Lys
NM_000138.5:c.8202C>G MANE Select	NP_000129.3:p.Asn2734Lys