Canonical Allele Identifier: CA2175484662

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409263T= , CM000677.2:g.48409263T=	GRCh38
NC_000015.9:g.48701460T= , CM000677.1:g.48701460T=	GRCh37
NC_000015.8:g.46488752T=	NCBI36
NG_008805.2:g.241526A= , LRG_778:g.241526A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4524A=
ENST00000682767.1:n.3640A=
ENST00000316623.10:c.*1727A= MANE Select	ENSP00000325527.5:n.*1727A=
ENST00000316623.9:c.*1727A=	ENSP00000325527.5:n.*1727A=
NM_000138.4:c.*1727A= , LRG_778t1:c.*1727A=	NP_000129.3:n.*1727A=
NM_000138.5:c.*1727A= MANE Select	NP_000129.3:n.*1727A=