Canonical Allele Identifier: CA2175537446

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520688G= , CM000677.2:g.48520688G=	GRCh38
NC_000015.9:g.48812885G= , CM000677.1:g.48812885G=	GRCh37
NC_000015.8:g.46600177G=	NCBI36
NG_008805.2:g.130101C= , LRG_778:g.130101C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1118C=	ENSP00000453958.2:p.Ala373=
ENST00000674301.2:c.1118C=	ENSP00000501333.2:p.Ala373=
ENST00000316623.10:c.1118C= MANE Select	ENSP00000325527.5:p.Ala373=
ENST00000316623.9:c.1118C=	ENSP00000325527.5:p.Ala373=
ENST00000537463.6:c.636+17023C=	ENSP00000440294.2:n.636+17023C=
NM_000138.4:c.1118C= , LRG_778t1:c.1118C=	NP_000129.3:p.Ala373=
NM_000138.5:c.1118C= MANE Select	NP_000129.3:p.Ala373=