Canonical Allele Identifier: CA392339815

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444619C>A , CM000677.2:g.48444619C>A	GRCh38
NC_000015.9:g.48736816C>A , CM000677.1:g.48736816C>A	GRCh37
NC_000015.8:g.46524108C>A	NCBI36
NG_008805.2:g.206170G>T , LRG_778:g.206170G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5959G>T MANE Select	NP_000129.3:p.Gly1987Cys
ENST00000316623.10:c.5959G>T MANE Select	ENSP00000325527.5:p.Gly1987Cys
NM_000138.4:c.5959G>T , LRG_778t1:c.5959G>T	NP_000129.3:p.Gly1987Cys
ENST00000316623.9:c.5959G>T	ENSP00000325527.5:p.Gly1987Cys
ENST00000537463.6:c.*1722G>T	ENSP00000440294.2:n.*1722G>T
ENST00000559133.5:c.1266G>T
ENST00000559133.6:c.5959G>T	ENSP00000453958.2:p.Gly1987Cys
ENST00000560820.1:n.79G>T
ENST00000674301.1:c.958G>T	ENSP00000501333.1:p.Gly320Cys
ENST00000674301.2:c.5959G>T	ENSP00000501333.2:p.Gly1987Cys
ENST00000684448.1:n.4633G>T