Canonical Allele Identifier: CA392332288

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430725T>C , CM000677.2:g.48430725T>C	GRCh38
NC_000015.9:g.48722922T>C , CM000677.1:g.48722922T>C	GRCh37
NC_000015.8:g.46510214T>C	NCBI36
NG_008805.2:g.220064A>G , LRG_778:g.220064A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6817A>G MANE Select	NP_000129.3:p.Met2273Val
ENST00000316623.10:c.6817A>G MANE Select	ENSP00000325527.5:p.Met2273Val
NM_000138.4:c.6817A>G , LRG_778t1:c.6817A>G	NP_000129.3:p.Met2273Val
ENST00000316623.9:c.6817A>G	ENSP00000325527.5:p.Met2273Val
ENST00000559133.5:c.2124A>G
ENST00000559133.6:c.6817A>G	ENSP00000453958.2:p.Met2273Val
ENST00000560720.1:n.104A>G
ENST00000674301.1:c.1921A>G	ENSP00000501333.1:n.1921A>G
ENST00000674301.2:c.*268A>G	ENSP00000501333.2:n.*268A>G
ENST00000682170.1:n.426A>G