Canonical Allele Identifier: CA392333748

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432988T>A , CM000677.2:g.48432988T>A	GRCh38
NC_000015.9:g.48725185T>A , CM000677.1:g.48725185T>A	GRCh37
NC_000015.8:g.46512477T>A	NCBI36
NG_008805.2:g.217801A>T , LRG_778:g.217801A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6617A>T MANE Select	NP_000129.3:p.Asp2206Val
ENST00000316623.10:c.6617A>T MANE Select	ENSP00000325527.5:p.Asp2206Val
NM_000138.4:c.6617A>T , LRG_778t1:c.6617A>T	NP_000129.3:p.Asp2206Val
ENST00000316623.9:c.6617A>T	ENSP00000325527.5:p.Asp2206Val
ENST00000537463.6:c.*2380A>T	ENSP00000440294.2:n.*2380A>T
ENST00000559133.5:c.1924A>T
ENST00000559133.6:c.6617A>T	ENSP00000453958.2:p.Asp2206Val
ENST00000674301.1:c.1721A>T	ENSP00000501333.1:n.1721A>T
ENST00000674301.2:c.*68A>T	ENSP00000501333.2:n.*68A>T
ENST00000682170.1:n.226A>T