Canonical Allele Identifier: CA2175489302

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415486T= , CM000677.2:g.48415486T=	GRCh38
NC_000015.9:g.48707683T= , CM000677.1:g.48707683T=	GRCh37
NC_000015.8:g.46494975T=	NCBI36
NG_008805.2:g.235303A= , LRG_778:g.235303A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859+50A=	ENSP00000453958.2:n.*859+50A=
ENST00000674301.2:c.*1564+50A=	ENSP00000501333.2:n.*1564+50A=
ENST00000682158.1:n.1432+50A=
ENST00000682170.1:n.2232+50A=
ENST00000682767.1:n.1348+50A=
ENST00000316623.10:c.8051+50A= MANE Select	ENSP00000325527.5:n.8051+50A=
ENST00000674301.1:c.3217+50A=	ENSP00000501333.1:n.3217+50A=
ENST00000316623.9:c.8051+50A=	ENSP00000325527.5:n.8051+50A=
ENST00000559133.5:c.3420+50A=
ENST00000561429.1:n.306+50A=
NM_000138.4:c.8051+50A= , LRG_778t1:c.8051+50A=	NP_000129.3:n.8051+50A=
NM_000138.5:c.8051+50A= MANE Select	NP_000129.3:n.8051+50A=