Canonical Allele Identifier: CA392336271

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48436967A>C , CM000677.2:g.48436967A>C	GRCh38
NC_000015.9:g.48729164A>C , CM000677.1:g.48729164A>C	GRCh37
NC_000015.8:g.46516456A>C	NCBI36
NG_008805.2:g.213822T>G , LRG_778:g.213822T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6490T>G MANE Select	NP_000129.3:p.Cys2164Gly
ENST00000316623.10:c.6490T>G MANE Select	ENSP00000325527.5:p.Cys2164Gly
NM_000138.4:c.6490T>G , LRG_778t1:c.6490T>G	NP_000129.3:p.Cys2164Gly
ENST00000316623.9:c.6490T>G	ENSP00000325527.5:p.Cys2164Gly
ENST00000537463.6:c.*2253T>G	ENSP00000440294.2:n.*2253T>G
ENST00000559133.5:c.1797T>G
ENST00000559133.6:c.6490T>G	ENSP00000453958.2:p.Cys2164Gly
ENST00000674301.1:c.1489T>G	ENSP00000501333.1:p.Cys497Gly
ENST00000674301.2:c.6490T>G	ENSP00000501333.2:p.Cys2164Gly
ENST00000682170.1:n.99T>G