Canonical Allele Identifier: CA2521472293

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410882C>T , CM000677.2:g.48410882C>T	GRCh38
NC_000015.9:g.48703079C>T , CM000677.1:g.48703079C>T	GRCh37
NC_000015.8:g.46490371C>T	NCBI36
NG_008805.2:g.239907G>A , LRG_778:g.239907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1532G>A	ENSP00000453958.2:n.*1532G>A
ENST00000682158.1:n.2105G>A
ENST00000682170.1:n.2905G>A
ENST00000682767.1:n.2021G>A
ENST00000316623.10:c.*108G>A MANE Select	ENSP00000325527.5:n.*108G>A
ENST00000316623.9:c.*108G>A	ENSP00000325527.5:n.*108G>A
ENST00000559133.5:c.4093G>A
NM_000138.4:c.*108G>A , LRG_778t1:c.*108G>A	NP_000129.3:n.*108G>A
NM_000138.5:c.*108G>A MANE Select	NP_000129.3:n.*108G>A