Canonical Allele Identifier: CA059899

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411307T>C , CM000677.2:g.48411307T>C	GRCh38
NC_000015.9:g.48703504T>C , CM000677.1:g.48703504T>C	GRCh37
NC_000015.8:g.46490796T>C	NCBI36
NG_008805.2:g.239482A>G , LRG_778:g.239482A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.8299A>G MANE Select	NP_000129.3:p.Asn2767Asp
ENST00000316623.10:c.8299A>G MANE Select	ENSP00000325527.5:p.Asn2767Asp
NM_000138.4:c.8299A>G , LRG_778t1:c.8299A>G	NP_000129.3:p.Asn2767Asp
ENST00000316623.9:c.8299A>G	ENSP00000325527.5:p.Asn2767Asp
ENST00000559133.5:c.3668A>G
ENST00000559133.6:c.*1107A>G	ENSP00000453958.2:n.*1107A>G
ENST00000561429.1:n.554A>G
ENST00000674301.1:c.3465A>G	ENSP00000501333.1:n.3465A>G
ENST00000674301.2:c.*1812A>G	ENSP00000501333.2:n.*1812A>G
ENST00000682158.1:n.1680A>G
ENST00000682170.1:n.2480A>G
ENST00000682767.1:n.1596A>G