Canonical Allele Identifier: CA2175489429

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415708C= , CM000677.2:g.48415708C=	GRCh38
NC_000015.9:g.48707905C= , CM000677.1:g.48707905C=	GRCh37
NC_000015.8:g.46495197C=	NCBI36
NG_008805.2:g.235081G= , LRG_778:g.235081G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7879G= MANE Select	NP_000129.3:p.Gly2627=
ENST00000316623.10:c.7879G= MANE Select	ENSP00000325527.5:p.Gly2627=
NM_000138.4:c.7879G= , LRG_778t1:c.7879G=	NP_000129.3:p.Gly2627=
ENST00000316623.9:c.7879G=	ENSP00000325527.5:p.Gly2627=
ENST00000559133.5:c.3248G=
ENST00000559133.6:c.*687G=	ENSP00000453958.2:n.*687G=
ENST00000561429.1:n.134G=
ENST00000674301.1:c.3045G=	ENSP00000501333.1:n.3045G=
ENST00000674301.2:c.*1392G=	ENSP00000501333.2:n.*1392G=
ENST00000682158.1:n.1260G=
ENST00000682170.1:n.2060G=
ENST00000682767.1:n.1176G=