Canonical Allele Identifier: CA2175489327

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415547G= , CM000677.2:g.48415547G=	GRCh38
NC_000015.9:g.48707744G= , CM000677.1:g.48707744G=	GRCh37
NC_000015.8:g.46495036G=	NCBI36
NG_008805.2:g.235242C= , LRG_778:g.235242C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*848C=	ENSP00000453958.2:n.*848C=
ENST00000674301.2:c.*1553C=	ENSP00000501333.2:n.*1553C=
ENST00000682158.1:n.1421C=
ENST00000682170.1:n.2221C=
ENST00000682767.1:n.1337C=
ENST00000316623.10:c.8040C= MANE Select	ENSP00000325527.5:p.Arg2680=
ENST00000674301.1:c.3206C=	ENSP00000501333.1:n.3206C=
ENST00000316623.9:c.8040C=	ENSP00000325527.5:p.Arg2680=
ENST00000559133.5:c.3409C=
ENST00000561429.1:n.295C=
NM_000138.4:c.8040C= , LRG_778t1:c.8040C=	NP_000129.3:p.Arg2680=
NM_000138.5:c.8040C= MANE Select	NP_000129.3:p.Arg2680=