Canonical Allele Identifier: CA2175529235

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508614A= , CM000677.2:g.48508614A=	GRCh38
NC_000015.9:g.48800811A= , CM000677.1:g.48800811A=	GRCh37
NC_000015.8:g.46588103A=	NCBI36
NG_008805.2:g.142175T= , LRG_778:g.142175T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1805T=	ENSP00000453958.2:p.Phe602=
ENST00000674301.2:c.1805T=	ENSP00000501333.2:p.Phe602=
ENST00000684448.1:n.479T=
ENST00000316623.10:c.1805T= MANE Select	ENSP00000325527.5:p.Phe602=
ENST00000316623.9:c.1805T=	ENSP00000325527.5:p.Phe602=
ENST00000537463.6:c.636+29097T=	ENSP00000440294.2:n.636+29097T=
NM_000138.4:c.1805T= , LRG_778t1:c.1805T=	NP_000129.3:p.Phe602=
NM_000138.5:c.1805T= MANE Select	NP_000129.3:p.Phe602=