Canonical Allele Identifier: CA2175518210

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467972A= , CM000677.2:g.48467972A=	GRCh38
NC_000015.9:g.48760169A= , CM000677.1:g.48760169A=	GRCh37
NC_000015.8:g.46547461A=	NCBI36
NG_008805.2:g.182817T= , LRG_778:g.182817T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4713T=	ENSP00000453958.2:p.Gly1571=
ENST00000674301.2:c.4713T=	ENSP00000501333.2:p.Gly1571=
ENST00000684448.1:n.3387T=
ENST00000316623.10:c.4713T= MANE Select	ENSP00000325527.5:p.Gly1571=
ENST00000316623.9:c.4713T=	ENSP00000325527.5:p.Gly1571=
ENST00000537463.6:c.*476T=	ENSP00000440294.2:n.*476T=
ENST00000559133.5:c.20T=
NM_000138.4:c.4713T= , LRG_778t1:c.4713T=	NP_000129.3:p.Gly1571=
NM_000138.5:c.4713T= MANE Select	NP_000129.3:p.Gly1571=