Canonical Allele Identifier: CA2175463916

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421728A= , CM000677.2:g.48421728A=	GRCh38
NC_000015.9:g.48713925A= , CM000677.1:g.48713925A=	GRCh37
NC_000015.8:g.46501217A=	NCBI36
NG_008805.2:g.229061T= , LRG_778:g.229061T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-42T=	ENSP00000453958.2:n.*379-42T=
ENST00000674301.2:c.*1084-42T=	ENSP00000501333.2:n.*1084-42T=
ENST00000682170.1:n.1752-42T=
ENST00000682767.1:n.868-42T=
ENST00000316623.10:c.7571-42T= MANE Select	ENSP00000325527.5:n.7571-42T=
ENST00000674301.1:c.2737-42T=	ENSP00000501333.1:n.2737-42T=
ENST00000316623.9:c.7571-42T=	ENSP00000325527.5:n.7571-42T=
ENST00000559133.5:c.2940-42T=
NM_000138.4:c.7571-42T= , LRG_778t1:c.7571-42T=	NP_000129.3:n.7571-42T=
NM_000138.5:c.7571-42T= MANE Select	NP_000129.3:n.7571-42T=