Canonical Allele Identifier: CA392349337

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463217T>A , CM000677.2:g.48463217T>A	GRCh38
NC_000015.9:g.48755414T>A , CM000677.1:g.48755414T>A	GRCh37
NC_000015.8:g.46542706T>A	NCBI36
NG_008805.2:g.187572A>T , LRG_778:g.187572A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.5089A>T MANE Select	NP_000129.3:p.Arg1697Ter
ENST00000316623.10:c.5089A>T MANE Select	ENSP00000325527.5:p.Arg1697Ter
NM_000138.4:c.5089A>T , LRG_778t1:c.5089A>T	NP_000129.3:p.Arg1697Ter
ENST00000316623.9:c.5089A>T	ENSP00000325527.5:p.Arg1697Ter
ENST00000537463.6:c.*852A>T	ENSP00000440294.2:n.*852A>T
ENST00000559133.5:c.396A>T
ENST00000559133.6:c.5089A>T	ENSP00000453958.2:p.Arg1697Ter
ENST00000674301.1:c.88A>T	ENSP00000501333.1:p.Arg30Ter
ENST00000674301.2:c.5089A>T	ENSP00000501333.2:p.Arg1697Ter
ENST00000684448.1:n.3763A>T