Canonical Allele Identifier: CA2175496000

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48474559G= , CM000677.2:g.48474559G=	GRCh38
NC_000015.9:g.48766756G= , CM000677.1:g.48766756G=	GRCh37
NC_000015.8:g.46554048G=	NCBI36
NG_008805.2:g.176230C= , LRG_778:g.176230C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4056C=	ENSP00000453958.2:p.Pro1352=
ENST00000674301.2:c.4056C=	ENSP00000501333.2:p.Pro1352=
ENST00000684448.1:n.2730C=
ENST00000316623.10:c.4056C= MANE Select	ENSP00000325527.5:p.Pro1352=
ENST00000316623.9:c.4056C=	ENSP00000325527.5:p.Pro1352=
ENST00000537463.6:c.728C=	ENSP00000440294.2:p.Pro243=
NM_000138.4:c.4056C= , LRG_778t1:c.4056C=	NP_000129.3:p.Pro1352=
NM_000138.5:c.4056C= MANE Select	NP_000129.3:p.Pro1352=