Canonical Allele Identifier: CA2175497500

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428124A= , CM000677.2:g.48428124A=	GRCh38
NC_000015.9:g.48720321A= , CM000677.1:g.48720321A=	GRCh37
NC_000015.8:g.46507613A=	NCBI36
NG_008805.2:g.222665T= , LRG_778:g.222665T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-181T=	ENSP00000453958.2:n.6998-181T=
ENST00000674301.2:c.*449-181T=	ENSP00000501333.2:n.*449-181T=
ENST00000682170.1:n.828T=
ENST00000682767.1:n.233-181T=
ENST00000316623.10:c.6997+222T= MANE Select	ENSP00000325527.5:n.6997+222T=
ENST00000674301.1:c.2102-181T=	ENSP00000501333.1:n.2102-181T=
ENST00000316623.9:c.6997+222T=	ENSP00000325527.5:n.6997+222T=
ENST00000559133.5:c.2305-181T=
ENST00000560720.1:n.506T=
NM_000138.4:c.6997+222T= , LRG_778t1:c.6997+222T=	NP_000129.3:n.6997+222T=
NM_000138.5:c.6997+222T= MANE Select	NP_000129.3:n.6997+222T=