Canonical Allele Identifier: CA2175508985

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441800T= , CM000677.2:g.48441800T=	GRCh38
NC_000015.9:g.48733997T= , CM000677.1:g.48733997T=	GRCh37
NC_000015.8:g.46521289T=	NCBI36
NG_008805.2:g.208989A= , LRG_778:g.208989A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6084A=	ENSP00000453958.2:p.Thr2028=
ENST00000674301.2:c.6084A=	ENSP00000501333.2:p.Thr2028=
ENST00000316623.10:c.6084A= MANE Select	ENSP00000325527.5:p.Thr2028=
ENST00000674301.1:c.1083A=	ENSP00000501333.1:p.Thr361=
ENST00000316623.9:c.6084A=	ENSP00000325527.5:p.Thr2028=
ENST00000537463.6:c.*1847A=	ENSP00000440294.2:n.*1847A=
ENST00000559133.5:c.1391A=
ENST00000560820.1:n.204A=
NM_000138.4:c.6084A= , LRG_778t1:c.6084A=	NP_000129.3:p.Thr2028=
NM_000138.5:c.6084A= MANE Select	NP_000129.3:p.Thr2028=