Canonical Allele Identifier: CA2175495005

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446740A= , CM000677.2:g.48446740A=	GRCh38
NC_000015.9:g.48738937A= , CM000677.1:g.48738937A=	GRCh37
NC_000015.8:g.46526229A=	NCBI36
NG_008805.2:g.204049T= , LRG_778:g.204049T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5754T=	ENSP00000453958.2:p.His1918=
ENST00000674301.2:c.5754T=	ENSP00000501333.2:p.His1918=
ENST00000684448.1:n.4428T=
ENST00000316623.10:c.5754T= MANE Select	ENSP00000325527.5:p.His1918=
ENST00000674301.1:c.753T=	ENSP00000501333.1:p.His251=
ENST00000316623.9:c.5754T=	ENSP00000325527.5:p.His1918=
ENST00000537463.6:c.*1517T=	ENSP00000440294.2:n.*1517T=
ENST00000559133.5:c.1061T=
NM_000138.4:c.5754T= , LRG_778t1:c.5754T=	NP_000129.3:p.His1918=
NM_000138.5:c.5754T= MANE Select	NP_000129.3:p.His1918=