Canonical Allele Identifier: CA2175492356

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445391C= , CM000677.2:g.48445391C=	GRCh38
NC_000015.9:g.48737588C= , CM000677.1:g.48737588C=	GRCh37
NC_000015.8:g.46524880C=	NCBI36
NG_008805.2:g.205398G= , LRG_778:g.205398G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5902G=	ENSP00000453958.2:p.Gly1968=
ENST00000674301.2:c.5902G=	ENSP00000501333.2:p.Gly1968=
ENST00000684448.1:n.4576G=
ENST00000316623.10:c.5902G= MANE Select	ENSP00000325527.5:p.Gly1968=
ENST00000674301.1:c.901G=	ENSP00000501333.1:p.Gly301=
ENST00000316623.9:c.5902G=	ENSP00000325527.5:p.Gly1968=
ENST00000537463.6:c.*1665G=	ENSP00000440294.2:n.*1665G=
ENST00000559133.5:c.1209G=
ENST00000560820.1:n.22G=
NM_000138.4:c.5902G= , LRG_778t1:c.5902G=	NP_000129.3:p.Gly1968=
NM_000138.5:c.5902G= MANE Select	NP_000129.3:p.Gly1968=