Canonical Allele Identifier: CA2175511914

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485440C= , CM000677.2:g.48485440C=	GRCh38
NC_000015.9:g.48777637C= , CM000677.1:g.48777637C=	GRCh37
NC_000015.8:g.46564929C=	NCBI36
NG_008805.2:g.165349G= , LRG_778:g.165349G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3646G=	ENSP00000453958.2:p.Glu1216=
ENST00000674301.2:c.3646G=	ENSP00000501333.2:p.Glu1216=
ENST00000684448.1:n.2320G=
ENST00000316623.10:c.3646G= MANE Select	ENSP00000325527.5:p.Glu1216=
ENST00000316623.9:c.3646G=	ENSP00000325527.5:p.Glu1216=
ENST00000537463.6:c.637-10790G=	ENSP00000440294.2:n.637-10790G=
NM_000138.4:c.3646G= , LRG_778t1:c.3646G=	NP_000129.3:p.Glu1216=
NM_000138.5:c.3646G= MANE Select	NP_000129.3:p.Glu1216=