Canonical Allele Identifier: CA2175496923

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427786T>C , CM000677.2:g.48427786T>C	GRCh38
NC_000015.9:g.48719983T>C , CM000677.1:g.48719983T>C	GRCh37
NC_000015.8:g.46507275T>C	NCBI36
NG_008805.2:g.223003A>G , LRG_778:g.223003A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6998-13A>G MANE Select	NP_000129.3:n.6998-13A>G
ENST00000316623.10:c.6998-13A>G MANE Select	ENSP00000325527.5:n.6998-13A>G
NM_000138.4:c.6998-13A>G , LRG_778t1:c.6998-13A>G	NP_000129.3:n.6998-13A>G
ENST00000316623.9:c.6998-13A>G	ENSP00000325527.5:n.6998-13A>G
ENST00000559133.5:c.2367-13A>G
ENST00000559133.6:c.7060-13A>G	ENSP00000453958.2:n.7060-13A>G
ENST00000674301.1:c.2164-13A>G	ENSP00000501333.1:n.2164-13A>G
ENST00000674301.2:c.*511-13A>G	ENSP00000501333.2:n.*511-13A>G
ENST00000682170.1:n.1166A>G
ENST00000682767.1:n.295-13A>G