Canonical Allele Identifier: CA2175464071

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421855A= , CM000677.2:g.48421855A=	GRCh38
NC_000015.9:g.48714052A= , CM000677.1:g.48714052A=	GRCh37
NC_000015.8:g.46501344A=	NCBI36
NG_008805.2:g.228934T= , LRG_778:g.228934T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+97T=	ENSP00000453958.2:n.*378+97T=
ENST00000674301.2:c.*1083+97T=	ENSP00000501333.2:n.*1083+97T=
ENST00000682170.1:n.1751+97T=
ENST00000682767.1:n.867+97T=
ENST00000316623.10:c.7570+97T= MANE Select	ENSP00000325527.5:n.7570+97T=
ENST00000674301.1:c.2736+97T=	ENSP00000501333.1:n.2736+97T=
ENST00000316623.9:c.7570+97T=	ENSP00000325527.5:n.7570+97T=
ENST00000559133.5:c.2939+97T=
NM_000138.4:c.7570+97T= , LRG_778t1:c.7570+97T=	NP_000129.3:n.7570+97T=
NM_000138.5:c.7570+97T= MANE Select	NP_000129.3:n.7570+97T=