Canonical Allele Identifier: CA2175486757

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411336T= , CM000677.2:g.48411336T=	GRCh38
NC_000015.9:g.48703533T= , CM000677.1:g.48703533T=	GRCh37
NC_000015.8:g.46490825T=	NCBI36
NG_008805.2:g.239453A= , LRG_778:g.239453A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1078A=	ENSP00000453958.2:n.*1078A=
ENST00000674301.2:c.*1783A=	ENSP00000501333.2:n.*1783A=
ENST00000682158.1:n.1651A=
ENST00000682170.1:n.2451A=
ENST00000682767.1:n.1567A=
ENST00000316623.10:c.8270A= MANE Select	ENSP00000325527.5:p.Asp2757=
ENST00000674301.1:c.3436A=	ENSP00000501333.1:n.3436A=
ENST00000316623.9:c.8270A=	ENSP00000325527.5:p.Asp2757=
ENST00000559133.5:c.3639A=
ENST00000561429.1:n.525A=
NM_000138.4:c.8270A= , LRG_778t1:c.8270A=	NP_000129.3:p.Asp2757=
NM_000138.5:c.8270A= MANE Select	NP_000129.3:p.Asp2757=