Canonical Allele Identifier: CA392324843

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420800T>G , CM000677.2:g.48420800T>G	GRCh38
NC_000015.9:g.48712997T>G , CM000677.1:g.48712997T>G	GRCh37
NC_000015.8:g.46500289T>G	NCBI36
NG_008805.2:g.229989A>C , LRG_778:g.229989A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7706A>C MANE Select	NP_000129.3:p.Asp2569Ala
ENST00000316623.10:c.7706A>C MANE Select	ENSP00000325527.5:p.Asp2569Ala
NM_000138.4:c.7706A>C , LRG_778t1:c.7706A>C	NP_000129.3:p.Asp2569Ala
ENST00000316623.9:c.7706A>C	ENSP00000325527.5:p.Asp2569Ala
ENST00000559133.5:c.3075A>C
ENST00000559133.6:c.*514A>C	ENSP00000453958.2:n.*514A>C
ENST00000674301.1:c.2872A>C	ENSP00000501333.1:n.2872A>C
ENST00000674301.2:c.*1219A>C	ENSP00000501333.2:n.*1219A>C
ENST00000682170.1:n.1887A>C
ENST00000682767.1:n.1003A>C