Canonical Allele Identifier: CA2175516360

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488482A= , CM000677.2:g.48488482A=	GRCh38
NC_000015.9:g.48780679A= , CM000677.1:g.48780679A=	GRCh37
NC_000015.8:g.46567971A=	NCBI36
NG_008805.2:g.162307T= , LRG_778:g.162307T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3094T=	ENSP00000453958.2:p.Cys1032=
ENST00000674301.2:c.3094T=	ENSP00000501333.2:p.Cys1032=
ENST00000684448.1:n.1768T=
ENST00000316623.10:c.3094T= MANE Select	ENSP00000325527.5:p.Cys1032=
ENST00000316623.9:c.3094T=	ENSP00000325527.5:p.Cys1032=
ENST00000537463.6:c.637-13832T=	ENSP00000440294.2:n.637-13832T=
NM_000138.4:c.3094T= , LRG_778t1:c.3094T=	NP_000129.3:p.Cys1032=
NM_000138.5:c.3094T= MANE Select	NP_000129.3:p.Cys1032=