Canonical Allele Identifier: CA2175484769

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409380A= , CM000677.2:g.48409380A=	GRCh38
NC_000015.9:g.48701577A= , CM000677.1:g.48701577A=	GRCh37
NC_000015.8:g.46488869A=	NCBI36
NG_008805.2:g.241409T= , LRG_778:g.241409T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4407T=
ENST00000682767.1:n.3523T=
ENST00000316623.10:c.*1610T= MANE Select	ENSP00000325527.5:n.*1610T=
ENST00000316623.9:c.*1610T=	ENSP00000325527.5:n.*1610T=
NM_000138.4:c.*1610T= , LRG_778t1:c.*1610T=	NP_000129.3:n.*1610T=
NM_000138.5:c.*1610T= MANE Select	NP_000129.3:n.*1610T=