Canonical Allele Identifier: CA2175497296

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434656A= , CM000677.2:g.48434656A=	GRCh38
NC_000015.9:g.48726853A= , CM000677.1:g.48726853A=	GRCh37
NC_000015.8:g.46514145A=	NCBI36
NG_008805.2:g.216133T= , LRG_778:g.216133T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6554T=	ENSP00000453958.2:p.Ile2185=
ENST00000674301.2:c.6554T=	ENSP00000501333.2:p.Ile2185=
ENST00000682170.1:n.163T=
ENST00000316623.10:c.6554T= MANE Select	ENSP00000325527.5:p.Ile2185=
ENST00000674301.1:c.1553T=	ENSP00000501333.1:p.Ile518=
ENST00000316623.9:c.6554T=	ENSP00000325527.5:p.Ile2185=
ENST00000537463.6:c.*2317T=	ENSP00000440294.2:n.*2317T=
ENST00000559133.5:c.1861T=
NM_000138.4:c.6554T= , LRG_778t1:c.6554T=	NP_000129.3:p.Ile2185=
NM_000138.5:c.6554T= MANE Select	NP_000129.3:p.Ile2185=