Canonical Allele Identifier: CA2175492506

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445431G= , CM000677.2:g.48445431G=	GRCh38
NC_000015.9:g.48737628G= , CM000677.1:g.48737628G=	GRCh37
NC_000015.8:g.46524920G=	NCBI36
NG_008805.2:g.205358C= , LRG_778:g.205358C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5862C=	ENSP00000453958.2:p.Phe1954=
ENST00000674301.2:c.5862C=	ENSP00000501333.2:p.Phe1954=
ENST00000684448.1:n.4536C=
ENST00000316623.10:c.5862C= MANE Select	ENSP00000325527.5:p.Phe1954=
ENST00000674301.1:c.861C=	ENSP00000501333.1:p.Phe287=
ENST00000316623.9:c.5862C=	ENSP00000325527.5:p.Phe1954=
ENST00000537463.6:c.*1625C=	ENSP00000440294.2:n.*1625C=
ENST00000559133.5:c.1169C=
NM_000138.4:c.5862C= , LRG_778t1:c.5862C=	NP_000129.3:p.Phe1954=
NM_000138.5:c.5862C= MANE Select	NP_000129.3:p.Phe1954=