Canonical Allele Identifier: CA2175495195

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446771G= , CM000677.2:g.48446771G=	GRCh38
NC_000015.9:g.48738968G= , CM000677.1:g.48738968G=	GRCh37
NC_000015.8:g.46526260G=	NCBI36
NG_008805.2:g.204018C= , LRG_778:g.204018C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5723C=	ENSP00000453958.2:p.Thr1908=
ENST00000674301.2:c.5723C=	ENSP00000501333.2:p.Thr1908=
ENST00000684448.1:n.4397C=
ENST00000316623.10:c.5723C= MANE Select	ENSP00000325527.5:p.Thr1908=
ENST00000674301.1:c.722C=	ENSP00000501333.1:p.Thr241=
ENST00000316623.9:c.5723C=	ENSP00000325527.5:p.Thr1908=
ENST00000537463.6:c.*1486C=	ENSP00000440294.2:n.*1486C=
ENST00000559133.5:c.1030C=
NM_000138.4:c.5723C= , LRG_778t1:c.5723C=	NP_000129.3:p.Thr1908=
NM_000138.5:c.5723C= MANE Select	NP_000129.3:p.Thr1908=