Canonical Allele Identifier: CA2175498844

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48449037T= , CM000677.2:g.48449037T=	GRCh38
NC_000015.9:g.48741234T= , CM000677.1:g.48741234T=	GRCh37
NC_000015.8:g.46528526T=	NCBI36
NG_008805.2:g.201752A= , LRG_778:g.201752A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5546-144A=	ENSP00000453958.2:n.5546-144A=
ENST00000674301.2:c.5546-144A=	ENSP00000501333.2:n.5546-144A=
ENST00000684448.1:n.4220-144A=
ENST00000316623.10:c.5546-144A= MANE Select	ENSP00000325527.5:n.5546-144A=
ENST00000674301.1:c.545-144A=	ENSP00000501333.1:n.545-144A=
ENST00000316623.9:c.5546-144A=	ENSP00000325527.5:n.5546-144A=
ENST00000537463.6:c.*1309-144A=	ENSP00000440294.2:n.*1309-144A=
ENST00000559133.5:c.853-144A=
NM_000138.4:c.5546-144A= , LRG_778t1:c.5546-144A=	NP_000129.3:n.5546-144A=
NM_000138.5:c.5546-144A= MANE Select	NP_000129.3:n.5546-144A=