Canonical Allele Identifier: CA2175464297

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421960G= , CM000677.2:g.48421960G=	GRCh38
NC_000015.9:g.48714157G= , CM000677.1:g.48714157G=	GRCh37
NC_000015.8:g.46501449G=	NCBI36
NG_008805.2:g.228829C= , LRG_778:g.228829C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*370C=	ENSP00000453958.2:n.*370C=
ENST00000674301.2:c.*1075C=	ENSP00000501333.2:n.*1075C=
ENST00000682170.1:n.1743C=
ENST00000682767.1:n.859C=
ENST00000316623.10:c.7562C= MANE Select	ENSP00000325527.5:p.Ser2521=
ENST00000674301.1:c.2728C=	ENSP00000501333.1:n.2728C=
ENST00000316623.9:c.7562C=	ENSP00000325527.5:p.Ser2521=
ENST00000559133.5:c.2931C=
NM_000138.4:c.7562C= , LRG_778t1:c.7562C=	NP_000129.3:p.Ser2521=
NM_000138.5:c.7562C= MANE Select	NP_000129.3:p.Ser2521=