Canonical Allele Identifier: CA2175496725

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434541T= , CM000677.2:g.48434541T=	GRCh38
NC_000015.9:g.48726738T= , CM000677.1:g.48726738T=	GRCh37
NC_000015.8:g.46514030T=	NCBI36
NG_008805.2:g.216248A= , LRG_778:g.216248A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+53A=	ENSP00000453958.2:n.6616+53A=
ENST00000674301.2:c.6616+53A=	ENSP00000501333.2:n.6616+53A=
ENST00000682170.1:n.225+53A=
ENST00000316623.10:c.6616+53A= MANE Select	ENSP00000325527.5:n.6616+53A=
ENST00000674301.1:c.1615+53A=	ENSP00000501333.1:n.1615+53A=
ENST00000316623.9:c.6616+53A=	ENSP00000325527.5:n.6616+53A=
ENST00000537463.6:c.*2379+53A=	ENSP00000440294.2:n.*2379+53A=
ENST00000559133.5:c.1923+53A=
NM_000138.4:c.6616+53A= , LRG_778t1:c.6616+53A=	NP_000129.3:n.6616+53A=
NM_000138.5:c.6616+53A= MANE Select	NP_000129.3:n.6616+53A=