Canonical Allele Identifier: CA2175509058

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441813C= , CM000677.2:g.48441813C=	GRCh38
NC_000015.9:g.48734010C= , CM000677.1:g.48734010C=	GRCh37
NC_000015.8:g.46521302C=	NCBI36
NG_008805.2:g.208976G= , LRG_778:g.208976G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6071G=	ENSP00000453958.2:p.Cys2024=
ENST00000674301.2:c.6071G=	ENSP00000501333.2:p.Cys2024=
ENST00000316623.10:c.6071G= MANE Select	ENSP00000325527.5:p.Cys2024=
ENST00000674301.1:c.1070G=	ENSP00000501333.1:p.Cys357=
ENST00000316623.9:c.6071G=	ENSP00000325527.5:p.Cys2024=
ENST00000537463.6:c.*1834G=	ENSP00000440294.2:n.*1834G=
ENST00000559133.5:c.1378G=
ENST00000560820.1:n.191G=
NM_000138.4:c.6071G= , LRG_778t1:c.6071G=	NP_000129.3:p.Cys2024=
NM_000138.5:c.6071G= MANE Select	NP_000129.3:p.Cys2024=