Canonical Allele Identifier: CA2175503674

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48437780T= , CM000677.2:g.48437780T=	GRCh38
NC_000015.9:g.48729977T= , CM000677.1:g.48729977T=	GRCh37
NC_000015.8:g.46517269T=	NCBI36
NG_008805.2:g.213009A= , LRG_778:g.213009A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6301A=	ENSP00000453958.2:p.Thr2101=
ENST00000674301.2:c.6301A=	ENSP00000501333.2:p.Thr2101=
ENST00000316623.10:c.6301A= MANE Select	ENSP00000325527.5:p.Thr2101=
ENST00000674301.1:c.1300A=	ENSP00000501333.1:p.Thr434=
ENST00000316623.9:c.6301A=	ENSP00000325527.5:p.Thr2101=
ENST00000537463.6:c.*2064A=	ENSP00000440294.2:n.*2064A=
ENST00000559133.5:c.1608A=
ENST00000560820.1:n.421A=
NM_000138.4:c.6301A= , LRG_778t1:c.6301A=	NP_000129.3:p.Thr2101=
NM_000138.5:c.6301A= MANE Select	NP_000129.3:p.Thr2101=