Canonical Allele Identifier: CA2175503655

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437771C= , CM000677.2:g.48437771C=	GRCh38
NC_000015.9:g.48729968C= , CM000677.1:g.48729968C=	GRCh37
NC_000015.8:g.46517260C=	NCBI36
NG_008805.2:g.213018G= , LRG_778:g.213018G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6310G=	ENSP00000453958.2:p.Asp2104=
ENST00000674301.2:c.6310G=	ENSP00000501333.2:p.Asp2104=
ENST00000316623.10:c.6310G= MANE Select	ENSP00000325527.5:p.Asp2104=
ENST00000674301.1:c.1309G=	ENSP00000501333.1:p.Asp437=
ENST00000316623.9:c.6310G=	ENSP00000325527.5:p.Asp2104=
ENST00000537463.6:c.*2073G=	ENSP00000440294.2:n.*2073G=
ENST00000559133.5:c.1617G=
ENST00000560820.1:n.430G=
NM_000138.4:c.6310G= , LRG_778t1:c.6310G=	NP_000129.3:p.Asp2104=
NM_000138.5:c.6310G= MANE Select	NP_000129.3:p.Asp2104=