Canonical Allele Identifier: CA2175498892

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428674T= , CM000677.2:g.48428674T=	GRCh38
NC_000015.9:g.48720871T= , CM000677.1:g.48720871T=	GRCh37
NC_000015.8:g.46508163T=	NCBI36
NG_008805.2:g.222115A= , LRG_778:g.222115A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-203A=	ENSP00000453958.2:n.6872-203A=
ENST00000674301.2:c.*323-203A=	ENSP00000501333.2:n.*323-203A=
ENST00000682170.1:n.481-203A=
ENST00000316623.10:c.6872-203A= MANE Select	ENSP00000325527.5:n.6872-203A=
ENST00000674301.1:c.1976-203A=	ENSP00000501333.1:n.1976-203A=
ENST00000316623.9:c.6872-203A=	ENSP00000325527.5:n.6872-203A=
ENST00000559133.5:c.2179-203A=
ENST00000560720.1:n.159-203A=
NM_000138.4:c.6872-203A= , LRG_778t1:c.6872-203A=	NP_000129.3:n.6872-203A=
NM_000138.5:c.6872-203A= MANE Select	NP_000129.3:n.6872-203A=