Canonical Allele Identifier: CA2175516203

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463982C= , CM000677.2:g.48463982C=	GRCh38
NC_000015.9:g.48756179C= , CM000677.1:g.48756179C=	GRCh37
NC_000015.8:g.46543471C=	NCBI36
NG_008805.2:g.186807G= , LRG_778:g.186807G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.4982G=	ENSP00000453958.2:p.Gly1661=
ENST00000674301.2:c.4982G=	ENSP00000501333.2:p.Gly1661=
ENST00000684448.1:n.3656G=
ENST00000316623.10:c.4982G= MANE Select	ENSP00000325527.5:p.Gly1661=
ENST00000316623.9:c.4982G=	ENSP00000325527.5:p.Gly1661=
ENST00000537463.6:c.*745G=	ENSP00000440294.2:n.*745G=
ENST00000559133.5:c.289G=
NM_000138.4:c.4982G= , LRG_778t1:c.4982G=	NP_000129.3:p.Gly1661=
NM_000138.5:c.4982G= MANE Select	NP_000129.3:p.Gly1661=