Canonical Allele Identifier: CA2175497679

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428214C= , CM000677.2:g.48428214C=	GRCh38
NC_000015.9:g.48720411C= , CM000677.1:g.48720411C=	GRCh37
NC_000015.8:g.46507703C=	NCBI36
NG_008805.2:g.222575G= , LRG_778:g.222575G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6997+132G=	ENSP00000453958.2:n.6997+132G=
ENST00000674301.2:c.*448+132G=	ENSP00000501333.2:n.*448+132G=
ENST00000682170.1:n.738G=
ENST00000682767.1:n.232+132G=
ENST00000316623.10:c.6997+132G= MANE Select	ENSP00000325527.5:n.6997+132G=
ENST00000674301.1:c.2101+132G=	ENSP00000501333.1:n.2101+132G=
ENST00000316623.9:c.6997+132G=	ENSP00000325527.5:n.6997+132G=
ENST00000559133.5:c.2304+132G=
ENST00000560720.1:n.416G=
NM_000138.4:c.6997+132G= , LRG_778t1:c.6997+132G=	NP_000129.3:n.6997+132G=
NM_000138.5:c.6997+132G= MANE Select	NP_000129.3:n.6997+132G=