Canonical Allele Identifier: CA392327447

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425367A>C , CM000677.2:g.48425367A>C	GRCh38
NC_000015.9:g.48717564A>C , CM000677.1:g.48717564A>C	GRCh37
NC_000015.8:g.46504856A>C	NCBI36
NG_008805.2:g.225422T>G , LRG_778:g.225422T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7453+2T>G MANE Select	NP_000129.3:n.7453+2T>G
ENST00000316623.10:c.7453+2T>G MANE Select	ENSP00000325527.5:n.7453+2T>G
NM_000138.4:c.7453+2T>G , LRG_778t1:c.7453+2T>G	NP_000129.3:n.7453+2T>G
ENST00000316623.9:c.7453+2T>G	ENSP00000325527.5:n.7453+2T>G
ENST00000559133.5:c.2822+2T>G
ENST00000559133.6:c.*261+2T>G	ENSP00000453958.2:n.*261+2T>G
ENST00000674301.1:c.2619+2T>G	ENSP00000501333.1:n.2619+2T>G
ENST00000674301.2:c.*966+2T>G	ENSP00000501333.2:n.*966+2T>G
ENST00000682170.1:n.1634+2T>G
ENST00000682767.1:n.750+2T>G