Canonical Allele Identifier: CA392331886

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430677A>T , CM000677.2:g.48430677A>T	GRCh38
NC_000015.9:g.48722874A>T , CM000677.1:g.48722874A>T	GRCh37
NC_000015.8:g.46510166A>T	NCBI36
NG_008805.2:g.220112T>A , LRG_778:g.220112T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6865T>A MANE Select	NP_000129.3:p.Cys2289Ser
ENST00000316623.10:c.6865T>A MANE Select	ENSP00000325527.5:p.Cys2289Ser
NM_000138.4:c.6865T>A , LRG_778t1:c.6865T>A	NP_000129.3:p.Cys2289Ser
ENST00000316623.9:c.6865T>A	ENSP00000325527.5:p.Cys2289Ser
ENST00000559133.5:c.2172T>A
ENST00000559133.6:c.6865T>A	ENSP00000453958.2:p.Cys2289Ser
ENST00000560720.1:n.152T>A
ENST00000674301.1:c.1969T>A	ENSP00000501333.1:n.1969T>A
ENST00000674301.2:c.*316T>A	ENSP00000501333.2:n.*316T>A
ENST00000682170.1:n.474T>A