Canonical Allele Identifier: CA2175491976

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472571G= , CM000677.2:g.48472571G=	GRCh38
NC_000015.9:g.48764768G= , CM000677.1:g.48764768G=	GRCh37
NC_000015.8:g.46552060G=	NCBI36
NG_008805.2:g.178218C= , LRG_778:g.178218C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4316C=	ENSP00000453958.2:p.Ala1439=
ENST00000674301.2:c.4316C=	ENSP00000501333.2:p.Ala1439=
ENST00000683268.1:n.283C=
ENST00000684448.1:n.2990C=
ENST00000316623.10:c.4316C= MANE Select	ENSP00000325527.5:p.Ala1439=
ENST00000316623.9:c.4316C=	ENSP00000325527.5:p.Ala1439=
ENST00000537463.6:c.*79C=	ENSP00000440294.2:n.*79C=
NM_000138.4:c.4316C= , LRG_778t1:c.4316C=	NP_000129.3:p.Ala1439=
NM_000138.5:c.4316C= MANE Select	NP_000129.3:p.Ala1439=