Canonical Allele Identifier: CA2175486238

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411101T= , CM000677.2:g.48411101T=	GRCh38
NC_000015.9:g.48703298T= , CM000677.1:g.48703298T=	GRCh37
NC_000015.8:g.46490590T=	NCBI36
NG_008805.2:g.239688A= , LRG_778:g.239688A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1313A=	ENSP00000453958.2:n.*1313A=
ENST00000674301.2:c.*2018A=	ENSP00000501333.2:n.*2018A=
ENST00000682158.1:n.1886A=
ENST00000682170.1:n.2686A=
ENST00000682767.1:n.1802A=
ENST00000316623.10:c.8505A= MANE Select	ENSP00000325527.5:p.Pro2835=
ENST00000674301.1:c.3671A=	ENSP00000501333.1:n.3671A=
ENST00000316623.9:c.8505A=	ENSP00000325527.5:p.Pro2835=
ENST00000559133.5:c.3874A=
NM_000138.4:c.8505A= , LRG_778t1:c.8505A=	NP_000129.3:p.Pro2835=
NM_000138.5:c.8505A= MANE Select	NP_000129.3:p.Pro2835=