Canonical Allele Identifier: CA392329964

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427689G>T , CM000677.2:g.48427689G>T	GRCh38
NC_000015.9:g.48719886G>T , CM000677.1:g.48719886G>T	GRCh37
NC_000015.8:g.46507178G>T	NCBI36
NG_008805.2:g.223100C>A , LRG_778:g.223100C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7082C>A MANE Select	NP_000129.3:p.Ser2361Ter
ENST00000316623.10:c.7082C>A MANE Select	ENSP00000325527.5:p.Ser2361Ter
NM_000138.4:c.7082C>A , LRG_778t1:c.7082C>A	NP_000129.3:p.Ser2361Ter
ENST00000316623.9:c.7082C>A	ENSP00000325527.5:p.Ser2361Ter
ENST00000559133.5:c.2451C>A
ENST00000559133.6:c.7144C>A	ENSP00000453958.2:p.Arg2382=
ENST00000674301.1:c.2248C>A	ENSP00000501333.1:n.2248C>A
ENST00000674301.2:c.*595C>A	ENSP00000501333.2:n.*595C>A
ENST00000682170.1:n.1263C>A
ENST00000682767.1:n.379C>A