Canonical Allele Identifier: CA2175486119

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411059A= , CM000677.2:g.48411059A=	GRCh38
NC_000015.9:g.48703256A= , CM000677.1:g.48703256A=	GRCh37
NC_000015.8:g.46490548A=	NCBI36
NG_008805.2:g.239730T= , LRG_778:g.239730T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1355T=	ENSP00000453958.2:n.*1355T=
ENST00000682158.1:n.1928T=
ENST00000682170.1:n.2728T=
ENST00000682767.1:n.1844T=
ENST00000316623.10:c.8547T= MANE Select	ENSP00000325527.5:p.Tyr2849=
ENST00000316623.9:c.8547T=	ENSP00000325527.5:p.Tyr2849=
ENST00000559133.5:c.3916T=
NM_000138.4:c.8547T= , LRG_778t1:c.8547T=	NP_000129.3:p.Tyr2849=
NM_000138.5:c.8547T= MANE Select	NP_000129.3:p.Tyr2849=