Canonical Allele Identifier: CA2175486629

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411273A= , CM000677.2:g.48411273A=	GRCh38
NC_000015.9:g.48703470A= , CM000677.1:g.48703470A=	GRCh37
NC_000015.8:g.46490762A=	NCBI36
NG_008805.2:g.239516T= , LRG_778:g.239516T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1141T=	ENSP00000453958.2:n.*1141T=
ENST00000674301.2:c.*1846T=	ENSP00000501333.2:n.*1846T=
ENST00000682158.1:n.1714T=
ENST00000682170.1:n.2514T=
ENST00000682767.1:n.1630T=
ENST00000316623.10:c.8333T= MANE Select	ENSP00000325527.5:p.Leu2778=
ENST00000674301.1:c.3499T=	ENSP00000501333.1:n.3499T=
ENST00000316623.9:c.8333T=	ENSP00000325527.5:p.Leu2778=
ENST00000559133.5:c.3702T=
ENST00000561429.1:n.588T=
NM_000138.4:c.8333T= , LRG_778t1:c.8333T=	NP_000129.3:p.Leu2778=
NM_000138.5:c.8333T= MANE Select	NP_000129.3:p.Leu2778=