Canonical Allele Identifier: CA2175464090

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421887A= , CM000677.2:g.48421887A=	GRCh38
NC_000015.9:g.48714084A= , CM000677.1:g.48714084A=	GRCh37
NC_000015.8:g.46501376A=	NCBI36
NG_008805.2:g.228902T= , LRG_778:g.228902T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+65T=	ENSP00000453958.2:n.*378+65T=
ENST00000674301.2:c.*1083+65T=	ENSP00000501333.2:n.*1083+65T=
ENST00000682170.1:n.1751+65T=
ENST00000682767.1:n.867+65T=
ENST00000316623.10:c.7570+65T= MANE Select	ENSP00000325527.5:n.7570+65T=
ENST00000674301.1:c.2736+65T=	ENSP00000501333.1:n.2736+65T=
ENST00000316623.9:c.7570+65T=	ENSP00000325527.5:n.7570+65T=
ENST00000559133.5:c.2939+65T=
NM_000138.4:c.7570+65T= , LRG_778t1:c.7570+65T=	NP_000129.3:n.7570+65T=
NM_000138.5:c.7570+65T= MANE Select	NP_000129.3:n.7570+65T=