Canonical Allele Identifier: CA2175486787

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411349G= , CM000677.2:g.48411349G=	GRCh38
NC_000015.9:g.48703546G= , CM000677.1:g.48703546G=	GRCh37
NC_000015.8:g.46490838G=	NCBI36
NG_008805.2:g.239440C= , LRG_778:g.239440C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1065C=	ENSP00000453958.2:n.*1065C=
ENST00000674301.2:c.*1770C=	ENSP00000501333.2:n.*1770C=
ENST00000682158.1:n.1638C=
ENST00000682170.1:n.2438C=
ENST00000682767.1:n.1554C=
ENST00000316623.10:c.8257C= MANE Select	ENSP00000325527.5:p.Leu2753=
ENST00000674301.1:c.3423C=	ENSP00000501333.1:n.3423C=
ENST00000316623.9:c.8257C=	ENSP00000325527.5:p.Leu2753=
ENST00000559133.5:c.3626C=
ENST00000561429.1:n.512C=
NM_000138.4:c.8257C= , LRG_778t1:c.8257C=	NP_000129.3:p.Leu2753=
NM_000138.5:c.8257C= MANE Select	NP_000129.3:p.Leu2753=