Canonical Allele Identifier: CA2175498557

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448882A= , CM000677.2:g.48448882A=	GRCh38
NC_000015.9:g.48741079A= , CM000677.1:g.48741079A=	GRCh37
NC_000015.8:g.46528371A=	NCBI36
NG_008805.2:g.201907T= , LRG_778:g.201907T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5557T=	ENSP00000453958.2:p.Cys1853=
ENST00000674301.2:c.5557T=	ENSP00000501333.2:p.Cys1853=
ENST00000684448.1:n.4231T=
ENST00000316623.10:c.5557T= MANE Select	ENSP00000325527.5:p.Cys1853=
ENST00000674301.1:c.556T=	ENSP00000501333.1:p.Cys186=
ENST00000316623.9:c.5557T=	ENSP00000325527.5:p.Cys1853=
ENST00000537463.6:c.*1320T=	ENSP00000440294.2:n.*1320T=
ENST00000559133.5:c.864T=
NM_000138.4:c.5557T= , LRG_778t1:c.5557T=	NP_000129.3:p.Cys1853=
NM_000138.5:c.5557T= MANE Select	NP_000129.3:p.Cys1853=