Canonical Allele Identifier: CA057983

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427590C>T , CM000677.2:g.48427590C>T	GRCh38
NC_000015.9:g.48719787C>T , CM000677.1:g.48719787C>T	GRCh37
NC_000015.8:g.46507079C>T	NCBI36
NG_008805.2:g.223199G>A , LRG_778:g.223199G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7181G>A MANE Select	NP_000129.3:p.Arg2394Gln
ENST00000316623.10:c.7181G>A MANE Select	ENSP00000325527.5:p.Arg2394Gln
NM_000138.4:c.7181G>A , LRG_778t1:c.7181G>A	NP_000129.3:p.Arg2394Gln
ENST00000316623.9:c.7181G>A	ENSP00000325527.5:p.Arg2394Gln
ENST00000559133.5:c.2550G>A
ENST00000559133.6:c.7243G>A	ENSP00000453958.2:p.Glu2415Lys
ENST00000674301.1:c.2347G>A	ENSP00000501333.1:n.2347G>A
ENST00000674301.2:c.*694G>A	ENSP00000501333.2:n.*694G>A
ENST00000682170.1:n.1362G>A
ENST00000682767.1:n.478G>A