Canonical Allele Identifier: CA392322544

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415554T>C , CM000677.2:g.48415554T>C	GRCh38
NC_000015.9:g.48707751T>C , CM000677.1:g.48707751T>C	GRCh37
NC_000015.8:g.46495043T>C	NCBI36
NG_008805.2:g.235235A>G , LRG_778:g.235235A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8033A>G MANE Select	NP_000129.3:p.Tyr2678Cys
ENST00000316623.10:c.8033A>G MANE Select	ENSP00000325527.5:p.Tyr2678Cys
NM_000138.4:c.8033A>G , LRG_778t1:c.8033A>G	NP_000129.3:p.Tyr2678Cys
ENST00000316623.9:c.8033A>G	ENSP00000325527.5:p.Tyr2678Cys
ENST00000559133.5:c.3402A>G
ENST00000559133.6:c.*841A>G	ENSP00000453958.2:n.*841A>G
ENST00000561429.1:n.288A>G
ENST00000674301.1:c.3199A>G	ENSP00000501333.1:n.3199A>G
ENST00000674301.2:c.*1546A>G	ENSP00000501333.2:n.*1546A>G
ENST00000682158.1:n.1414A>G
ENST00000682170.1:n.2214A>G
ENST00000682767.1:n.1330A>G