Canonical Allele Identifier: CA2175485887

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410659A= , CM000677.2:g.48410659A=	GRCh38
NC_000015.9:g.48702856A= , CM000677.1:g.48702856A=	GRCh37
NC_000015.8:g.46490148A=	NCBI36
NG_008805.2:g.240130T= , LRG_778:g.240130T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1755T=	ENSP00000453958.2:n.*1755T=
ENST00000682158.1:n.2328T=
ENST00000682170.1:n.3128T=
ENST00000682767.1:n.2244T=
ENST00000316623.10:c.*331T= MANE Select	ENSP00000325527.5:n.*331T=
ENST00000316623.9:c.*331T=	ENSP00000325527.5:n.*331T=
ENST00000559133.5:c.4316T=
NM_000138.4:c.*331T= , LRG_778t1:c.*331T=	NP_000129.3:n.*331T=
NM_000138.5:c.*331T= MANE Select	NP_000129.3:n.*331T=