Canonical Allele Identifier: CA2175498071

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428371G= , CM000677.2:g.48428371G=	GRCh38
NC_000015.9:g.48720568G= , CM000677.1:g.48720568G=	GRCh37
NC_000015.8:g.46507860G=	NCBI36
NG_008805.2:g.222418C= , LRG_778:g.222418C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6972C=	ENSP00000453958.2:p.Ala2324=
ENST00000674301.2:c.*423C=	ENSP00000501333.2:n.*423C=
ENST00000682170.1:n.581C=
ENST00000682767.1:n.207C=
ENST00000316623.10:c.6972C= MANE Select	ENSP00000325527.5:p.Ala2324=
ENST00000674301.1:c.2076C=	ENSP00000501333.1:n.2076C=
ENST00000316623.9:c.6972C=	ENSP00000325527.5:p.Ala2324=
ENST00000559133.5:c.2279C=
ENST00000560720.1:n.259C=
NM_000138.4:c.6972C= , LRG_778t1:c.6972C=	NP_000129.3:p.Ala2324=
NM_000138.5:c.6972C= MANE Select	NP_000129.3:p.Ala2324=