Canonical Allele Identifier: CA392326235

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422062T>C , CM000677.2:g.48422062T>C	GRCh38
NC_000015.9:g.48714259T>C , CM000677.1:g.48714259T>C	GRCh37
NC_000015.8:g.46501551T>C	NCBI36
NG_008805.2:g.228727A>G , LRG_778:g.228727A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7460A>G MANE Select	NP_000129.3:p.Asp2487Gly
ENST00000316623.10:c.7460A>G MANE Select	ENSP00000325527.5:p.Asp2487Gly
NM_000138.4:c.7460A>G , LRG_778t1:c.7460A>G	NP_000129.3:p.Asp2487Gly
ENST00000316623.9:c.7460A>G	ENSP00000325527.5:p.Asp2487Gly
ENST00000559133.5:c.2829A>G
ENST00000559133.6:c.*268A>G	ENSP00000453958.2:n.*268A>G
ENST00000674301.1:c.2626A>G	ENSP00000501333.1:n.2626A>G
ENST00000674301.2:c.*973A>G	ENSP00000501333.2:n.*973A>G
ENST00000682170.1:n.1641A>G
ENST00000682767.1:n.757A>G