Canonical Allele Identifier: CA392333612

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432956A>T , CM000677.2:g.48432956A>T	GRCh38
NC_000015.9:g.48725153A>T , CM000677.1:g.48725153A>T	GRCh37
NC_000015.8:g.46512445A>T	NCBI36
NG_008805.2:g.217833T>A , LRG_778:g.217833T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6649T>A MANE Select	NP_000129.3:p.Cys2217Ser
ENST00000316623.10:c.6649T>A MANE Select	ENSP00000325527.5:p.Cys2217Ser
NM_000138.4:c.6649T>A , LRG_778t1:c.6649T>A	NP_000129.3:p.Cys2217Ser
ENST00000316623.9:c.6649T>A	ENSP00000325527.5:p.Cys2217Ser
ENST00000537463.6:c.*2412T>A	ENSP00000440294.2:n.*2412T>A
ENST00000559133.5:c.1956T>A
ENST00000559133.6:c.6649T>A	ENSP00000453958.2:p.Cys2217Ser
ENST00000674301.1:c.1753T>A	ENSP00000501333.1:n.1753T>A
ENST00000674301.2:c.*100T>A	ENSP00000501333.2:n.*100T>A
ENST00000682170.1:n.258T>A