Canonical Allele Identifier: CA392328106

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425493T>C , CM000677.2:g.48425493T>C	GRCh38
NC_000015.9:g.48717690T>C , CM000677.1:g.48717690T>C	GRCh37
NC_000015.8:g.46504982T>C	NCBI36
NG_008805.2:g.225296A>G , LRG_778:g.225296A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7331-2A>G MANE Select	NP_000129.3:n.7331-2A>G
ENST00000316623.10:c.7331-2A>G MANE Select	ENSP00000325527.5:n.7331-2A>G
NM_000138.4:c.7331-2A>G , LRG_778t1:c.7331-2A>G	NP_000129.3:n.7331-2A>G
ENST00000316623.9:c.7331-2A>G	ENSP00000325527.5:n.7331-2A>G
ENST00000559133.5:c.2700-2A>G
ENST00000559133.6:c.*139-2A>G	ENSP00000453958.2:n.*139-2A>G
ENST00000674301.1:c.2497-2A>G	ENSP00000501333.1:n.2497-2A>G
ENST00000674301.2:c.*844-2A>G	ENSP00000501333.2:n.*844-2A>G
ENST00000682170.1:n.1512-2A>G
ENST00000682767.1:n.628-2A>G