Canonical Allele Identifier: CA2175498124

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428385C= , CM000677.2:g.48428385C=	GRCh38
NC_000015.9:g.48720582C= , CM000677.1:g.48720582C=	GRCh37
NC_000015.8:g.46507874C=	NCBI36
NG_008805.2:g.222404G= , LRG_778:g.222404G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6958G=	ENSP00000453958.2:p.Asp2320=
ENST00000674301.2:c.*409G=	ENSP00000501333.2:n.*409G=
ENST00000682170.1:n.567G=
ENST00000682767.1:n.193G=
ENST00000316623.10:c.6958G= MANE Select	ENSP00000325527.5:p.Asp2320=
ENST00000674301.1:c.2062G=	ENSP00000501333.1:n.2062G=
ENST00000316623.9:c.6958G=	ENSP00000325527.5:p.Asp2320=
ENST00000559133.5:c.2265G=
ENST00000560720.1:n.245G=
NM_000138.4:c.6958G= , LRG_778t1:c.6958G=	NP_000129.3:p.Asp2320=
NM_000138.5:c.6958G= MANE Select	NP_000129.3:p.Asp2320=