Canonical Allele Identifier: CA2175537805

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520811C= , CM000677.2:g.48520811C=	GRCh38
NC_000015.9:g.48813008C= , CM000677.1:g.48813008C=	GRCh37
NC_000015.8:g.46600300C=	NCBI36
NG_008805.2:g.129978G= , LRG_778:g.129978G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.995G=	ENSP00000453958.2:p.Arg332=
ENST00000674301.2:c.995G=	ENSP00000501333.2:p.Arg332=
ENST00000316623.10:c.995G= MANE Select	ENSP00000325527.5:p.Arg332=
ENST00000316623.9:c.995G=	ENSP00000325527.5:p.Arg332=
ENST00000537463.6:c.636+16900G=	ENSP00000440294.2:n.636+16900G=
NM_000138.4:c.995G= , LRG_778t1:c.995G=	NP_000129.3:p.Arg332=
NM_000138.5:c.995G= MANE Select	NP_000129.3:p.Arg332=