Canonical Allele Identifier: CA2175498281

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448803C= , CM000677.2:g.48448803C=	GRCh38
NC_000015.9:g.48741000C= , CM000677.1:g.48741000C=	GRCh37
NC_000015.8:g.46528292C=	NCBI36
NG_008805.2:g.201986G= , LRG_778:g.201986G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5636G=	ENSP00000453958.2:p.Gly1879=
ENST00000674301.2:c.5636G=	ENSP00000501333.2:p.Gly1879=
ENST00000684448.1:n.4310G=
ENST00000316623.10:c.5636G= MANE Select	ENSP00000325527.5:p.Gly1879=
ENST00000674301.1:c.635G=	ENSP00000501333.1:p.Gly212=
ENST00000316623.9:c.5636G=	ENSP00000325527.5:p.Gly1879=
ENST00000537463.6:c.*1399G=	ENSP00000440294.2:n.*1399G=
ENST00000559133.5:c.943G=
NM_000138.4:c.5636G= , LRG_778t1:c.5636G=	NP_000129.3:p.Gly1879=
NM_000138.5:c.5636G= MANE Select	NP_000129.3:p.Gly1879=