Canonical Allele Identifier: CA392320685

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412572G>C , CM000677.2:g.48412572G>C	GRCh38
NC_000015.9:g.48704769G>C , CM000677.1:g.48704769G>C	GRCh37
NC_000015.8:g.46492061G>C	NCBI36
NG_008805.2:g.238217C>G , LRG_778:g.238217C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1031C>G	ENSP00000453958.2:n.*1031C>G
ENST00000674301.2:c.*1736C>G	ENSP00000501333.2:n.*1736C>G
ENST00000682158.1:n.1604C>G
ENST00000682170.1:n.2404C>G
ENST00000682767.1:n.1520C>G
ENST00000316623.10:c.8223C>G MANE Select	ENSP00000325527.5:p.Ile2741Met
ENST00000674301.1:c.3389C>G	ENSP00000501333.1:n.3389C>G
ENST00000316623.9:c.8223C>G	ENSP00000325527.5:p.Ile2741Met
ENST00000559133.5:c.3592C>G
ENST00000561429.1:n.478C>G
NM_000138.4:c.8223C>G , LRG_778t1:c.8223C>G	NP_000129.3:p.Ile2741Met
NM_000138.5:c.8223C>G MANE Select	NP_000129.3:p.Ile2741Met