Canonical Allele Identifier: CA392329165

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427587C>T , CM000677.2:g.48427587C>T	GRCh38
NC_000015.9:g.48719784C>T , CM000677.1:g.48719784C>T	GRCh37
NC_000015.8:g.46507076C>T	NCBI36
NG_008805.2:g.223202G>A , LRG_778:g.223202G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7184G>A MANE Select	NP_000129.3:p.Gly2395Glu
ENST00000316623.10:c.7184G>A MANE Select	ENSP00000325527.5:p.Gly2395Glu
NM_000138.4:c.7184G>A , LRG_778t1:c.7184G>A	NP_000129.3:p.Gly2395Glu
ENST00000316623.9:c.7184G>A	ENSP00000325527.5:p.Gly2395Glu
ENST00000559133.5:c.2553G>A
ENST00000559133.6:c.7246G>A	ENSP00000453958.2:p.Asp2416Asn
ENST00000674301.1:c.2350G>A	ENSP00000501333.1:n.2350G>A
ENST00000674301.2:c.*697G>A	ENSP00000501333.2:n.*697G>A
ENST00000682170.1:n.1365G>A
ENST00000682767.1:n.481G>A