Canonical Allele Identifier: CA2175497870

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428331G= , CM000677.2:g.48428331G=	GRCh38
NC_000015.9:g.48720528G= , CM000677.1:g.48720528G=	GRCh37
NC_000015.8:g.46507820G=	NCBI36
NG_008805.2:g.222458C= , LRG_778:g.222458C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6997+15C=	ENSP00000453958.2:n.6997+15C=
ENST00000674301.2:c.*448+15C=	ENSP00000501333.2:n.*448+15C=
ENST00000682170.1:n.621C=
ENST00000682767.1:n.232+15C=
ENST00000316623.10:c.6997+15C= MANE Select	ENSP00000325527.5:n.6997+15C=
ENST00000674301.1:c.2101+15C=	ENSP00000501333.1:n.2101+15C=
ENST00000316623.9:c.6997+15C=	ENSP00000325527.5:n.6997+15C=
ENST00000559133.5:c.2304+15C=
ENST00000560720.1:n.299C=
NM_000138.4:c.6997+15C= , LRG_778t1:c.6997+15C=	NP_000129.3:n.6997+15C=
NM_000138.5:c.6997+15C= MANE Select	NP_000129.3:n.6997+15C=