Canonical Allele Identifier: CA392320464

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474558C>T , CM000677.2:g.48474558C>T	GRCh38
NC_000015.9:g.48766755C>T , CM000677.1:g.48766755C>T	GRCh37
NC_000015.8:g.46554047C>T	NCBI36
NG_008805.2:g.176231G>A , LRG_778:g.176231G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.4057G>A MANE Select	NP_000129.3:p.Gly1353Arg
ENST00000316623.10:c.4057G>A MANE Select	ENSP00000325527.5:p.Gly1353Arg
NM_000138.4:c.4057G>A , LRG_778t1:c.4057G>A	NP_000129.3:p.Gly1353Arg
ENST00000316623.9:c.4057G>A	ENSP00000325527.5:p.Gly1353Arg
ENST00000537463.6:c.729G>A	ENSP00000440294.2:p.Pro243=
ENST00000559133.6:c.4057G>A	ENSP00000453958.2:p.Gly1353Arg
ENST00000674301.2:c.4057G>A	ENSP00000501333.2:p.Gly1353Arg
ENST00000684448.1:n.2731G>A