Canonical Allele Identifier: CA2175463167

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421508C= , CM000677.2:g.48421508C=	GRCh38
NC_000015.9:g.48713705C= , CM000677.1:g.48713705C=	GRCh37
NC_000015.8:g.46500997C=	NCBI36
NG_008805.2:g.229281G= , LRG_778:g.229281G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+50G=	ENSP00000453958.2:n.*507+50G=
ENST00000674301.2:c.*1212+50G=	ENSP00000501333.2:n.*1212+50G=
ENST00000682170.1:n.1880+50G=
ENST00000682767.1:n.996+50G=
ENST00000316623.10:c.7699+50G= MANE Select	ENSP00000325527.5:n.7699+50G=
ENST00000674301.1:c.2865+50G=	ENSP00000501333.1:n.2865+50G=
ENST00000316623.9:c.7699+50G=	ENSP00000325527.5:n.7699+50G=
ENST00000559133.5:c.3068+50G=
NM_000138.4:c.7699+50G= , LRG_778t1:c.7699+50G=	NP_000129.3:n.7699+50G=
NM_000138.5:c.7699+50G= MANE Select	NP_000129.3:n.7699+50G=