Canonical Allele Identifier: CA054380

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463127G>A , CM000677.2:g.48463127G>A	GRCh38
NC_000015.9:g.48755324G>A , CM000677.1:g.48755324G>A	GRCh37
NC_000015.8:g.46542616G>A	NCBI36
NG_008805.2:g.187662C>T , LRG_778:g.187662C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5179C>T MANE Select	NP_000129.3:p.Arg1727Trp
ENST00000316623.10:c.5179C>T MANE Select	ENSP00000325527.5:p.Arg1727Trp
NM_000138.4:c.5179C>T , LRG_778t1:c.5179C>T	NP_000129.3:p.Arg1727Trp
ENST00000316623.9:c.5179C>T	ENSP00000325527.5:p.Arg1727Trp
ENST00000537463.6:c.*942C>T	ENSP00000440294.2:n.*942C>T
ENST00000559133.5:c.486C>T
ENST00000559133.6:c.5179C>T	ENSP00000453958.2:p.Arg1727Trp
ENST00000674301.1:c.178C>T	ENSP00000501333.1:p.Arg60Trp
ENST00000674301.2:c.5179C>T	ENSP00000501333.2:p.Arg1727Trp
ENST00000684448.1:n.3853C>T