Canonical Allele Identifier: CA2175509036

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441809G= , CM000677.2:g.48441809G=	GRCh38
NC_000015.9:g.48734006G= , CM000677.1:g.48734006G=	GRCh37
NC_000015.8:g.46521298G=	NCBI36
NG_008805.2:g.208980C= , LRG_778:g.208980C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6075C=	ENSP00000453958.2:p.Ala2025=
ENST00000674301.2:c.6075C=	ENSP00000501333.2:p.Ala2025=
ENST00000316623.10:c.6075C= MANE Select	ENSP00000325527.5:p.Ala2025=
ENST00000674301.1:c.1074C=	ENSP00000501333.1:p.Ala358=
ENST00000316623.9:c.6075C=	ENSP00000325527.5:p.Ala2025=
ENST00000537463.6:c.*1838C=	ENSP00000440294.2:n.*1838C=
ENST00000559133.5:c.1382C=
ENST00000560820.1:n.195C=
NM_000138.4:c.6075C= , LRG_778t1:c.6075C=	NP_000129.3:p.Ala2025=
NM_000138.5:c.6075C= MANE Select	NP_000129.3:p.Ala2025=