Canonical Allele Identifier: CA2175503657

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437778C= , CM000677.2:g.48437778C=	GRCh38
NC_000015.9:g.48729975C= , CM000677.1:g.48729975C=	GRCh37
NC_000015.8:g.46517267C=	NCBI36
NG_008805.2:g.213011G= , LRG_778:g.213011G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6303G=	ENSP00000453958.2:p.Thr2101=
ENST00000674301.2:c.6303G=	ENSP00000501333.2:p.Thr2101=
ENST00000316623.10:c.6303G= MANE Select	ENSP00000325527.5:p.Thr2101=
ENST00000674301.1:c.1302G=	ENSP00000501333.1:p.Thr434=
ENST00000316623.9:c.6303G=	ENSP00000325527.5:p.Thr2101=
ENST00000537463.6:c.*2066G=	ENSP00000440294.2:n.*2066G=
ENST00000559133.5:c.1610G=
ENST00000560820.1:n.423G=
NM_000138.4:c.6303G= , LRG_778t1:c.6303G=	NP_000129.3:p.Thr2101=
NM_000138.5:c.6303G= MANE Select	NP_000129.3:p.Thr2101=