Canonical Allele Identifier: CA2175489332

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415554T= , CM000677.2:g.48415554T=	GRCh38
NC_000015.9:g.48707751T= , CM000677.1:g.48707751T=	GRCh37
NC_000015.8:g.46495043T=	NCBI36
NG_008805.2:g.235235A= , LRG_778:g.235235A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*841A=	ENSP00000453958.2:n.*841A=
ENST00000674301.2:c.*1546A=	ENSP00000501333.2:n.*1546A=
ENST00000682158.1:n.1414A=
ENST00000682170.1:n.2214A=
ENST00000682767.1:n.1330A=
ENST00000316623.10:c.8033A= MANE Select	ENSP00000325527.5:p.Tyr2678=
ENST00000674301.1:c.3199A=	ENSP00000501333.1:n.3199A=
ENST00000316623.9:c.8033A=	ENSP00000325527.5:p.Tyr2678=
ENST00000559133.5:c.3402A=
ENST00000561429.1:n.288A=
NM_000138.4:c.8033A= , LRG_778t1:c.8033A=	NP_000129.3:p.Tyr2678=
NM_000138.5:c.8033A= MANE Select	NP_000129.3:p.Tyr2678=