Canonical Allele Identifier: CA2175485417

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410078T= , CM000677.2:g.48410078T=	GRCh38
NC_000015.9:g.48702275T= , CM000677.1:g.48702275T=	GRCh37
NC_000015.8:g.46489567T=	NCBI36
NG_008805.2:g.240711A= , LRG_778:g.240711A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*2336A=	ENSP00000453958.2:n.*2336A=
ENST00000682170.1:n.3709A=
ENST00000682767.1:n.2825A=
ENST00000316623.10:c.*912A= MANE Select	ENSP00000325527.5:n.*912A=
ENST00000316623.9:c.*912A=	ENSP00000325527.5:n.*912A=
ENST00000559133.5:c.4897A=
NM_000138.4:c.*912A= , LRG_778t1:c.*912A=	NP_000129.3:n.*912A=
NM_000138.5:c.*912A= MANE Select	NP_000129.3:n.*912A=