Canonical Allele Identifier: CA392332186

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430714A>C , CM000677.2:g.48430714A>C	GRCh38
NC_000015.9:g.48722911A>C , CM000677.1:g.48722911A>C	GRCh37
NC_000015.8:g.46510203A>C	NCBI36
NG_008805.2:g.220075T>G , LRG_778:g.220075T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6828T>G MANE Select	NP_000129.3:p.Cys2276Trp
ENST00000316623.10:c.6828T>G MANE Select	ENSP00000325527.5:p.Cys2276Trp
NM_000138.4:c.6828T>G , LRG_778t1:c.6828T>G	NP_000129.3:p.Cys2276Trp
ENST00000316623.9:c.6828T>G	ENSP00000325527.5:p.Cys2276Trp
ENST00000559133.5:c.2135T>G
ENST00000559133.6:c.6828T>G	ENSP00000453958.2:p.Cys2276Trp
ENST00000560720.1:n.115T>G
ENST00000674301.1:c.1932T>G	ENSP00000501333.1:n.1932T>G
ENST00000674301.2:c.*279T>G	ENSP00000501333.2:n.*279T>G
ENST00000682170.1:n.437T>G