Canonical Allele Identifier: CA2175509101

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441821T= , CM000677.2:g.48441821T=	GRCh38
NC_000015.9:g.48734018T= , CM000677.1:g.48734018T=	GRCh37
NC_000015.8:g.46521310T=	NCBI36
NG_008805.2:g.208968A= , LRG_778:g.208968A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6063A=	ENSP00000453958.2:p.Pro2021=
ENST00000674301.2:c.6063A=	ENSP00000501333.2:p.Pro2021=
ENST00000316623.10:c.6063A= MANE Select	ENSP00000325527.5:p.Pro2021=
ENST00000674301.1:c.1062A=	ENSP00000501333.1:p.Pro354=
ENST00000316623.9:c.6063A=	ENSP00000325527.5:p.Pro2021=
ENST00000537463.6:c.*1826A=	ENSP00000440294.2:n.*1826A=
ENST00000559133.5:c.1370A=
ENST00000560820.1:n.183A=
NM_000138.4:c.6063A= , LRG_778t1:c.6063A=	NP_000129.3:p.Pro2021=
NM_000138.5:c.6063A= MANE Select	NP_000129.3:p.Pro2021=