Canonical Allele Identifier: CA057990

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427582T>C , CM000677.2:g.48427582T>C	GRCh38
NC_000015.9:g.48719779T>C , CM000677.1:g.48719779T>C	GRCh37
NC_000015.8:g.46507071T>C	NCBI36
NG_008805.2:g.223207A>G , LRG_778:g.223207A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7189A>G MANE Select	NP_000129.3:p.Met2397Val
ENST00000316623.10:c.7189A>G MANE Select	ENSP00000325527.5:p.Met2397Val
NM_000138.4:c.7189A>G , LRG_778t1:c.7189A>G	NP_000129.3:p.Met2397Val
ENST00000316623.9:c.7189A>G	ENSP00000325527.5:p.Met2397Val
ENST00000559133.5:c.2558A>G
ENST00000559133.6:c.7251A>G	ENSP00000453958.2:p.Ser2417=
ENST00000674301.1:c.2355A>G	ENSP00000501333.1:n.2355A>G
ENST00000674301.2:c.*702A>G	ENSP00000501333.2:n.*702A>G
ENST00000682170.1:n.1370A>G
ENST00000682767.1:n.486A>G