Canonical Allele Identifier: CA2175464068

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421845T= , CM000677.2:g.48421845T=	GRCh38
NC_000015.9:g.48714042T= , CM000677.1:g.48714042T=	GRCh37
NC_000015.8:g.46501334T=	NCBI36
NG_008805.2:g.228944A= , LRG_778:g.228944A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*378+107A=	ENSP00000453958.2:n.*378+107A=
ENST00000674301.2:c.*1083+107A=	ENSP00000501333.2:n.*1083+107A=
ENST00000682170.1:n.1751+107A=
ENST00000682767.1:n.867+107A=
ENST00000316623.10:c.7570+107A= MANE Select	ENSP00000325527.5:n.7570+107A=
ENST00000674301.1:c.2736+107A=	ENSP00000501333.1:n.2736+107A=
ENST00000316623.9:c.7570+107A=	ENSP00000325527.5:n.7570+107A=
ENST00000559133.5:c.2939+107A=
NM_000138.4:c.7570+107A= , LRG_778t1:c.7570+107A=	NP_000129.3:n.7570+107A=
NM_000138.5:c.7570+107A= MANE Select	NP_000129.3:n.7570+107A=