Canonical Allele Identifier: CA2175496878

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434596T= , CM000677.2:g.48434596T=	GRCh38
NC_000015.9:g.48726793T= , CM000677.1:g.48726793T=	GRCh37
NC_000015.8:g.46514085T=	NCBI36
NG_008805.2:g.216193A= , LRG_778:g.216193A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6614A=	ENSP00000453958.2:p.Glu2205=
ENST00000674301.2:c.6614A=	ENSP00000501333.2:p.Glu2205=
ENST00000682170.1:n.223A=
ENST00000316623.10:c.6614A= MANE Select	ENSP00000325527.5:p.Glu2205=
ENST00000674301.1:c.1613A=	ENSP00000501333.1:p.Glu538=
ENST00000316623.9:c.6614A=	ENSP00000325527.5:p.Glu2205=
ENST00000537463.6:c.*2377A=	ENSP00000440294.2:n.*2377A=
ENST00000559133.5:c.1921A=
NM_000138.4:c.6614A= , LRG_778t1:c.6614A=	NP_000129.3:p.Glu2205=
NM_000138.5:c.6614A= MANE Select	NP_000129.3:p.Glu2205=