Canonical Allele Identifier: CA2175512710

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444973G= , CM000677.2:g.48444973G=	GRCh38
NC_000015.9:g.48737170G= , CM000677.1:g.48737170G=	GRCh37
NC_000015.8:g.46524462G=	NCBI36
NG_008805.2:g.205816C= , LRG_778:g.205816C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5918-313C=	ENSP00000453958.2:n.5918-313C=
ENST00000674301.2:c.5918-313C=	ENSP00000501333.2:n.5918-313C=
ENST00000684448.1:n.4592-313C=
ENST00000316623.10:c.5918-313C= MANE Select	ENSP00000325527.5:n.5918-313C=
ENST00000674301.1:c.917-313C=	ENSP00000501333.1:n.917-313C=
ENST00000316623.9:c.5918-313C=	ENSP00000325527.5:n.5918-313C=
ENST00000537463.6:c.*1681-313C=	ENSP00000440294.2:n.*1681-313C=
ENST00000559133.5:c.1225-313C=
ENST00000560820.1:n.38-313C=
NM_000138.4:c.5918-313C= , LRG_778t1:c.5918-313C=	NP_000129.3:n.5918-313C=
NM_000138.5:c.5918-313C= MANE Select	NP_000129.3:n.5918-313C=