Canonical Allele Identifier: CA392330376

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427774C>T , CM000677.2:g.48427774C>T	GRCh38
NC_000015.9:g.48719971C>T , CM000677.1:g.48719971C>T	GRCh37
NC_000015.8:g.46507263C>T	NCBI36
NG_008805.2:g.223015G>A , LRG_778:g.223015G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6998-1G>A MANE Select	NP_000129.3:n.6998-1G>A
ENST00000316623.10:c.6998-1G>A MANE Select	ENSP00000325527.5:n.6998-1G>A
NM_000138.4:c.6998-1G>A , LRG_778t1:c.6998-1G>A	NP_000129.3:n.6998-1G>A
ENST00000316623.9:c.6998-1G>A	ENSP00000325527.5:n.6998-1G>A
ENST00000559133.5:c.2367-1G>A
ENST00000559133.6:c.7060-1G>A	ENSP00000453958.2:n.7060-1G>A
ENST00000674301.1:c.2164-1G>A	ENSP00000501333.1:n.2164-1G>A
ENST00000674301.2:c.*511-1G>A	ENSP00000501333.2:n.*511-1G>A
ENST00000682170.1:n.1178G>A
ENST00000682767.1:n.295-1G>A